Professor Peter Humphries
Fellow Emeritus, Genetics
Fellow Emeritus, Trinity Inst. of Neurosciences (TCIN)
Publications and Further Research Outputs
Peer-Reviewed Publications
Chadderton, N. and Palfi, A. and Maloney, D.M. and Carrigan, M. and Finnegan, L.K. and Hanlon, K.S. and Shortall, C. and Oâ Reilly, M. and Humphries, P. and Cassidy, L. and Kenna, P.F. and Millington-Ward, S. and Farrar, G.J., Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction, Pharmaceutics, 15, (2), 2023
Oâ Callaghan, J. and Delaney, C. and Oâ Connor, M. and van Batenburg-Sherwood, J. and Schicht, M. and LÃŒtjen-Drecoll, E. and Hudson, N. and Dhubhghaill, S.N. and Humphries, P. and Stanley, C. and Keravala, A. and Chalberg, T. and Lawrence, M.S. and Campbell, M., Matrix metalloproteinase-3 (MMP-3)â"mediated gene therapy for glaucoma, Science Advances, 9, (16), 2023
Millington-Ward, S. and Chadderton, N. and Finnegan, L.K. and Post, I.J.M. and Carrigan, M. and Nixon, R. and Humphries, M.M. and Humphries, P. and Kenna, P.F. and Palfi, A. and Farrar, G.J., RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models, International Journal of Molecular Sciences, 24, (4), 2023
Palfi, A. and Chadderton, N. and Millington-Ward, S. and Post, I. and Humphries, P. and Kenna, P.F. and Farrar, G.J., AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice, Molecular Therapy - Methods and Clinical Development, 25, 2022, p236-249
McDowell, C.M. and Kizhatil, K. and Elliott, M.H. and Overby, D.R. and van Batenburg-Sherwood, J. and Cameron Millar, J. and Kuehn, M.H. and Zode, G. and Acott, T.S. and Anderson, M.G. and Bhattacharya, S.K. and Bertrand, J.A. and Borras, T. and Bovenkamp, D.E. and Cheng, L. and Danias, J. and De Ieso, M.L. and Du, Y. and Faralli, J.A. and Fuchshofer, R. and Ganapathy, P.S. and Gong, H. and Herberg, S. and Hernandez, H. and Humphries, P. and John, S.W.M. and Kaufman, P.L. and Keller, K.E. and Kelley, M.J. and Kelly, R.A. and Krizaj, D. and Kumar, A. and Leonard, B.C. and Lieberman, R.L. and Liton, P. and Liu, Y. and Liu, K.C. and Lopez, N.N. and Mao, W. and Mavlyutov, T. and McDonnell, F. and McLellan, G.J. and Mzyk, P. and Nartey, A. and Pasquale, L.R. and Patel, G.C. and Pattabiraman, P.P. and Peters, D.M. and Raghunathan, V. and Rao, P.V. and Rayana, N. and Raychaudhuri, U. and Reina-Torres, E. and Ren, R. and Rhee, D. and Chowdhury, U.R. and Samples, J.R. and Griffen Samples, E. and Sharif, N. and Schuman, J.S. and Sheffield, V.C. and Stevenson, C.H. and Soundararajan, A. and Subramanian, P. and Sugali, C.K. and Sun, Y. and Toris, C.B. and Torrejon, K.Y. and Vahabikashi, A. and Vranka, J.A. and Wang, T. and Willoughby, C.E. and Xin, C. and Yun, H. and Zhang, H.F. and Fautsch, M.P. and Tamm, E.R. and Clark, A.F. and Ross Ethier, C. and Daniel Stamer, W., Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms, Investigative Ophthalmology and Visual Science, 63, (2), 2022
Cassidy, P.S. and Kelly, R.A. and Reina-Torres, E. and Sherwood, J.M. and Humphries, M.M. and Kiang, A.-S. and Farrar, G.J. and O'Brien, C. and Campbell, M. and Stamer, W.D. and Overby, D.R. and Humphries, P. and O'Callaghan, J., siRNA targeting Schlemm's canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model, Molecular Therapy - Methods and Clinical Development, 20, 2021, p86-94
Kelly, Ruth A and Perkumas, Kristin M and Campbell, Matthew and Farrar, G Jane and Stamer, W Daniel and Humphries, Pete and O'Callaghan, Jeffrey and O'Brien, Colm J, Fibrotic Changes to Schlemm's Canal Endothelial Cells in Glaucoma, International journal of molecular sciences, 22, (17), 2021
Dockery, A. and Whelan, L. and Humphries, P. and Jane Farrar, G., Next-generation sequencing applications for inherited retinal diseases, International Journal of Molecular Sciences, 22, (11), 2021
Ozaki, Ema, Gibbons, Luke, Neto, Nuno GB, Kenna, Paul, Carty, Michael, Humphries, Marian, Humphries, Pete, Campbell, Matthew, Monaghan, Michael, Bowie, Andrew and Doyle, Sarah L, SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration, Life Science Alliance, 3, (5), 2020
Maloney, D.M. and Chadderton, N. and Millington-Ward, S. and Palfi, A. and Shortall, C. and Oâ Byrne, J.J. and Cassidy, L. and Keegan, D. and Humphries, P. and Kenna, P. and Farrar, G.J., Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction, Frontiers in Neuroscience, 14, (571479), 2020
Kenna, P.F. and Humphries, M.M. and Kiang, A.-S. and Brabet, P. and Guillou, L. and Ozaki, E. and Campbell, M. and Jane Farrar, G. and Koenekoop, R. and Humphries, P., Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy, BMJ Open Ophthalmology, 5, (1), 2020
Millington-Ward, S. and Chadderton, N. and Berkeley, M. and Finnegan, L.K. and Hanlon, K.S. and Carrigan, M. and Humphries, P. and Kenna, P.F. and Palfi, A. and Farrar, G.J., Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells, Scientific Reports, 10, (1), 2020
Palfi, A. and Yesmambetov, A. and Millington-Ward, S. and Shortall, C. and Humphries, P. and Kenna, P.F. and Chadderton, N. and Farrar, G.J., AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1â^'/â^' Retinas, Frontiers in Neuroscience, 14, (891), 2020
Whelan, L. and Dockery, A. and Wynne, N. and Zhu, J. and Stephenson, K. and Silvestri, G. and Turner, J. and Oâ Byrne, J.J. and Carrigan, M. and Humphries, P. and Keegan, D. and Kenna, P.F. and Farrar, G.J., Findings from a genotyping study of over 1000 people with inherited retinal disorders in Ireland, Genes, 11, (1), 2020
Palfi, A. and Yesmambetov, A. and Humphries, P. and Hokamp, K. and Farrar, G.J., Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice, Frontiers in Neuroscience, 14, (656), 2020
Kiang, A.-S. and Kenna, P.F. and Humphries, M.M. and Ozaki, E. and Koenekoop, R.K. and Campbell, M. and Jane Farrar, G. and Humphries, P., Properties and therapeutic implications of an enigmatic d477g rpe65 variant associated with autosomal dominant retinitis pigmentosa, Genes, 11, (12), 2020, p1-21
Hudson, N. and Celkova, L. and Hopkins, A. and Greene, C. and Storti, F. and Ozaki, E. and Fahey, E. and Theodoropoulou, S. and Kenna, P.F. and Humphries, M.M. and Curtis, A.M. and Demmons, E. and Browne, A. and Liddie, S. and Lawrence, M.S. and Grimm, C. and Cahill, M.T. and Humphries, P. and Doyle, S.L. and Campbell, M., Dysregulated claudin-5 cycling in the inner retina causes retinal pigment epithelial cell atrophy, JCI Insight, 4, (15), 2019, p130273-
Oâ Callaghan, J. and Campbell, M. and Humphries, P., Intracameral delivery of AAV to corneal endothelium for expression of secretory proteins, Methods in Molecular Biology, 1950, 2019, p263-270
Reina-Torres, E. and Bertrand, J.A. and O'Callaghan, J. and Sherwood, J.M. and Humphries, P. and Overby, D.R., Reduced humidity experienced by mice in vivo coincides with reduced outflow facility measured ex vivo, Experimental Eye Research, 186, (107745), 2019
Crosbie, D.E. and Keaney, J. and Tam, L.C.S. and Daniel Stamer, W. and Campbell, M. and Humphries, P., Age-related changes in eye morphology and aqueous humor dynamics in DBA/2J mice using contrast-enhanced ocular MRI, Magnetic Resonance Imaging, 59, 2019, p10-16
Campbell, M. and Cassidy, P.S. and O'Callaghan, J. and Crosbie, D.E. and Humphries, P., Manipulating ocular endothelial tight junctions: Applications in treatment of retinal disease pathology and ocular hypertension, Progress in Retinal and Eye Research, 62, 2018, p120-133
Farrar, G.J. and Carrigan, M. and Dockery, A. and Millington-Ward, S. and Palfi, A. and Chadderton, N. and Humphries, M. and Kiang, A.S. and Kenna, P.F. and Humphries, P., Toward an elucidation of the molecular genetics of inherited retinal degenerations, Human Molecular Genetics, 26, (R1), 2017, pR2-R11
Tam L.C.S, Reina-Torres E, Sherwood J.M, Cassidy P.S, Crosbie D.E, LÃ"tjen-Drecoll E, FlÃ"gel-Koch C, Perkumas K, Humphries M.M, Kiang A.-S, O'Callaghan J, Callanan J.J, Read A.T, Ethier C.R, O'Brien C, Lawrence M, Campbell M, Stamer W.D, Overby D.R, Humphries P, Enhancement of outflow facility in the murine eye by targeting selected tight-junctions of Schlemm's canal endothelia, Scientific Reports, 7, 2017, p40717-
Hanlon, K.S. and Chadderton, N. and Palfi, A. and Fernandez, A.B. and Humphries, P. and Kenna, P.F. and Millington-Ward, S. and Farrar, G.J., A novel retinal ganglion cell promoter for utility in AAV vectors, Frontiers in Neuroscience, 11, (SEP), 2017
C Greene, J Kealy, M M Humphries, Y Gong, J Hou, N Hudson, L M Cassidy, R Martiniano, V Shashi, S R Hooper, G A Grant, P F Kenna, K Norris, C K Callaghan, M dN Islam, S M O'Mara, Z Najda, S G Campbell, J S Pachter, J Thomas, N M Williams, P Humphries, K C Murphy, M Campbell, Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia, Molecular Psychiatry, 2017
Dockery, A. and Stephenson, K. and Keegan, D. and Wynne, N. and Silvestri, G. and Humphries, P. and Kenna, P.F. and Carrigan, M. and Farrar, G.J., Target 5000: Target capture sequencing for inherited retinal degenerations, Genes, 8, (11), 2017, p304-
O'Callaghan, J. and Crosbie, D.E. and Cassidy, P.S. and Sherwood, J.M. and FlÃŒgel-Koch, C. and LÃŒtjen-Drecoll, E. and Humphries, M.M. and Reina-Torres, E. and Wallace, D. and Kiang, A.-S. and Campbell, M. and Stamer, W.D. and Overby, D.R. and O'Brien, C. and Tam, L.C.S. and Humphries, P., Therapeutic potential of AAV-mediated MMP-3 secretion from corneal endothelium in treating glaucoma, Human Molecular Genetics, 26, (7), 2017, p1230-1246
O'Callaghan, J. and Cassidy, P.S. and Humphries, P., Open-angle glaucoma: therapeutically targeting the extracellular matrix of the conventional outflow pathway, Expert opinion on therapeutic targets, 21, (11), 2017, p1037-1050
Carrigan M, Duignan E, Humphries P, Palfi A, Kenna P.F, Jane Farrar G, A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration, British Journal of Ophthalmology, 100, (4), 2016, p501 - 504
Carrigan M, Duignan E, Malone C.P.G, Stephenson K, Saad T, McDermott C, Green A, Keegan D, Humphries P, Kenna P.F, Farrar G.J, Panel-Based population next-generation sequencing for inherited retinal degenerations, Scientific Reports, 6, 2016, p33248-
Palfi, A. and Chadderton, N. and O'Reilly, M. and Nagel-Wolfrum, K. and Wolfrum, U. and Bennett, J. and Humphries, P. and Kenna, P. and Millington-Ward, S. and Farrar, J., Corrigendum to â Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rhoâ"/â" mouseâ (Molecular Therapy - Methods and Clinical Development (2015) 2 (S2329050116300286) (10.1038/mtm.2015.16)), Molecular Therapy - Methods and Clinical Development, 3, 2016, p16032
Doyle SL, López FJ, Celkova L, Brennan K, Mulfaul K, Ozaki E, Kenna PF, Kurali E, Hudson N, Doggett T, Ferguson TA, Humphries P, Adamson P, Campbell M, IL-18 Immunotherapy for Neovascular AMD: Tolerability and Efficacy in Nonhuman Primates., Invest Ophthalmol Vis Sci, 56, (9), 2015, p5424-30
Tanimoto, N., Sothilingam, V., Kondo, M., (...), Humphries, P., Seeliger, M.W., Electroretinographic assessment of rod- and cone-mediated bipolar cell pathways using flicker stimuli in mice, Scientific Reports, 5, 2015, p10731-
Doyle SL, López FJ, Humphries P, Adamson P, Campbell M, Author Response: The Role of IL-18 in the Treatment of AMD., Invest Ophthalmol Vis Sci, 56, (3), 2015, p8237-8
Keaney J, Walsh DM, O'Malley T, Hudson N, Crosbie DE, Loftus T, Sheehan F, McDaid J, Humphries MM, Callanan JJ, Brett FM, Farrell MA, Humphries P, Campbell M., Autoregulated paracellular clearance of amyloid-β across the blood-brain barrier., Science Advances, 1, (8), 2015, p10.1126/sci adv.1500472
Palfi Arpad, Chadderton Naomi, O'Reilly Mary, Nagel-Wolfrum Kerstin, Wolfrum Uwe, Bennett Jean, Humphries Peter, Kenna Paul, Millington-Ward Sophia, Farrar GJ, Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rhoâ, '/â, ' mouse, Molecular Therapy-Methods & Clinical Development, 2, 2015, p15016-
Doyle S.L, Adamson P, López F.J, Humphries P, Campbell M, Reply to IL-18 is not therapeutic for neovascular age-related macular degeneration, Nature Medicine, 20, (12), 2014, p1376 - 1377
Daiger, S.P., Bowne, S.J., Sullivan, L.S., (...), Chen, R., Li, Y. , Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)., Advances in experimental medicine and biology, 801, 2014, p123-129
Doyle, S.L., Adamson, P., López, F.J., Humphries, P., Campbell, M. , Interleukin-18 bioactivity and dose: Data interpretation at a crossroads, Investigative Ophthalmology and Visual Science, 55, (12), 2014, p8349
Campbell, M., Doyle, S., Humphries, P. , IL-18: A new player in immunotherapy for age-related macular degeneration?, Expert Review of Clinical Immunology, 10, (10), 2014, p1273-1275
Tanimoto, N., Sothilingam, V., Gloeckner, G., (...), Biel, M., Seeliger, M.W. , Auditory event-related signals in mouse ERG recordings, Documenta Ophthalmologica, 128, (1), 2014, p25-32
Nguyen, A.T., Campbell, M., Kiang, A.S., Humphries, M.M., Humphries, P. , Current therapeutic strategies for P23H RHO-linked RP., Advances in experimental medicine and biology, 801, 2014, p471-476
Campbell, M., Doyle, S.L., Ozaki, E., (...), Humphries, M.M., Humphries, P. , An overview of the involvement of interleukin-18 in degenerative retinopathies., Advances in experimental medicine and biology, 801, 2014, p409-415
Kiang, A.S., Humphries, M.M., Campbell, M., Humphries, P. , Antioxidant therapy for retinal disease., Advances in experimental medicine and biology, 801, 2014, p783-789
Ozaki, E., Campbell, M., Kiang, A.S., (...), Doyle, S.L., Humphries, P. , Inflammation in age-related macular degeneration., Advances in experimental medicine and biology, 801, 2014, p229-235
Doyle, SL, Ozaki, E, Brennan, K, Humphries, MM, Mulfaul, K, Keaney, J, Kenna, PF, Maminishkis, A, Kiang, AS, Saunders, SP, Hams, E, Lavelle, EC, Gardiner, C, Fallon, PG, Adamson, P, Humphries, P, Campbell, M, IL-18 Attenuates Experimental Choroidal Neovascularization as a Potential Therapy for Wet Age-Related Macular Degeneration, SCIENCE TRANSLATIONAL MEDICINE, 6, 2014, p230-
Barrier modulation in drug delivery to the retina. in, Retinal Degeneration, 2013, pp371-80 , [Campbell M, Humphries MM, Humphries P]
N Chadderton, A Palfi, S Millington-Ward, O Gobbo, N Overlack, M Carrigan, M O'Reilly, M Campbell, C Ehrhardt, U Wolfrum, P Humphries, PF Kenna, GJ Farrar, Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy, Eur J Hum Genet, 21, (1), 2013, p62-68
Tam LC, Kiang AS, Campbell M, Keaney J, Farrar GJ, Humphries MM, Kenna PF, Humphries P, Protein misfolding and potential therapeutic treatments in inherited retinopathies., Advances in experimental medicine and biology, 723, 2012, p567-72
Nguyen AT, Campbell M, Kenna PF, Kiang AS, Tam L, Humphries MM, Humphries P, Calpain and photoreceptor apoptosis., Advances in experimental medicine and biology, 723, 2012, p547-52
Campbell M, Humphries P, The blood-retina barrier: tight junctions and barrier modulation., Advances in experimental medicine and biology, 763, 2012, p70-84
Hanrahan F, Campbell M, Nguyen AT, Suzuki M, Kiang AS, Tam LC, Gobbo OL, Dhubhghaill SN, Humphries MM, Kenna PF, Humphries P, On further development of barrier modulation as a technique for systemic ocular drug delivery., Advances in experimental medicine and biology, 723, 2012, p155-9
Fischer MD, Huber G, Paquet-Durand F, Humphries P, Redmond TM, Grimm C, Seeliger MW, In vivo assessment of rodent retinal structure using spectral domain optical coherence tomography., Advances in experimental medicine and biology, 723, 2012, p489-94
Palfi, A., Chadderton, N., McKee, A.G., Blanco Fernandez, A., Humphries, P., Kenna, P.F., Farrar, G.J., Efficacy of codelivery of dual AAV2/5 vectors in the murine retina and hippocampus, Human Gene Therapy, 23, (8), 2012, p847-858
Czekaj M, Haas J, Gebhardt M, Müller-Reichert T, Humphries P, Farrar J, Bartsch U, Ader M, In vitro expanded stem cells from the developing retina fail to generate photoreceptors but differentiate into myelinating oligodendrocytes., PloS one, 7, (7), 2012, pe41798
Farrar GJ, Millington-Ward S, Chadderton N, Humphries P, Kenna PF, Gene-based therapies for dominantly inherited retinopathies., Gene therapy, 19, (2), 2012, p137-44
Campbell M, Hanrahan F, Gobbo OL, Kelly ME, Kiang AS, Humphries MM, Nguyen AT, Ozaki E, Keaney J, Blau CW, Kerskens CM, Cahalan SD, Callanan JJ, Wallace E, Grant GA, Doherty CP, Humphries P, Targeted suppression of claudin-5 decreases cerebral oedema and improves cognitive outcome following traumatic brain injury., Nature communications, 3, 2012, p849
Humphries MM, Kenna PF, Campbell M, Tam LC, Nguyen AT, Farrar GJ, Botto M, Kiang AS, Humphries P, C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa., European journal of human genetics : EJHG, 20, (1), 2012, p64-8
Hanrahan, F, Campbell, M, Nguyen, AT, Suzuki, M, Kiang, AS, Tam, LC, Gobbo, OL, Dhubhghaill, SN, Humphries, MM, Kenna, PF, Humphries, P, LaVail, MM, Ash, JD, Anderson, RE, Hollyfield, JG, Grimm, C, On Further Development of Barrier Modulation as a Technique for Systemic Ocular Drug Delivery, RETINAL DEGENERATIVE DISEASES, 723, 2012, p155-159
Doyle SL, Campbell M, Ozaki E, Salomon RG, Mori A, Kenna PF, Farrar GJ, Kiang AS, Humphries MM, Lavelle EC, O'Neill LA, Hollyfield JG, Humphries P, NLRP3 has a protective role in age-related macular degeneration through the induction of IL-18 by drusen components., Nature medicine, 18, (5), 2012, p791-798
Bowne, SJ, Humphries, MM, Sullivan, LS, Kenna, PF, Tam, LCS, Kiang, AS, Campbell, M, Weinstock, GM, Koboldt, DC, Ding, L, Fulton, RS, Sodergren, EJ, Allman, D, Millington-Ward, S, Palfi, A, McKee, A, Blanton, SH, Slifer, S, Konidari, I, Farrar, GJ, Daiger, SP, Humphries, P, A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement, EUROPEAN JOURNAL OF HUMAN GENETICS, 19, (10), 2011, p1074-1081
Bowne, S.J., Humphries, M.M., Sullivan, L.S., Kenna, P.F., Tam, L.C.S., Kiang, A.S., Campbell, M., (...), Humphries, P. , Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement (European Journal of Human Genetics (2011) 19 (1074-1081) DOI: 10.1038/ejhg.2011.86), 2011, - 1109
Keaney J, Campbell M, Humphries P, From RNA interference technology to effective therapy: how far have we come and how far to go?, Therapeutic delivery, 2, (11), 2011, p1395-406
Campbell M, Humphries P, Size-selective and in vitro assessment of inner blood retina barrier permeability., Methods in molecular biology (Clifton, N.J.), 763, 2011, p355-67
Sophia Millington-Ward, Naomi Chadderton, Mary O'Reilly, Arpad Palfi, Tobias Goldmann, Claire Kilty, Marian Humphries, Uwe Wolfrum, Jean Bennett, Peter Humphries, Paul F Kenna and G Jane Farrar, Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa, Molecular Therapy, 2011
Campbell M, Humphries MM, Nguyen ATH, Gobbo OL, Tam LCS, Suzuki M, Hanrahan F, Ozaki E, Farrar G-J, Kiang A-S, Kenna PF, Humphries P. , Systemic low-molecular weight drug delivery to pre-selected neuronal regions, EMBO Molecular Medicine, 3, (4), 2011, p235-245
Seeliger, M.W., Brombas, A., Weiler, R., Humphries, P., Knop, G., Tanimoto, N., Müller, F., Modulation of rod photoreceptor output by HCN1 channels is essential for regular mesopic cone vision, Nature Communications, 2, (1), 2011, part. no. 532
Campbell M, Nguyen AT, Kiang AS, Tam L, Kenna PF, Dhubhghaill SN, Humphries M, Farrar GJ, Humphries P, Reversible and size-selective opening of the inner Blood-Retina barrier: a novel therapeutic strategy., Advances in Experimental Medicine and Biology, 664, (Part 3), 2010, p301-8
Campbell M, Ozaki E, Humphries P, Systemic delivery of therapeutics to neuronal tissues: a barrier modulation approach., Expert Opinion on Drug Delivery, 7, (7), 2010, p859-69
Hanrahan, F., Humphries, P., Campbell, M., RNAi-mediated barrier modulation: Synergies of the brain and eye, Therapeutic Delivery , 1, (4), 2010, p587-594
Ni Dhubhghaill SS, Cahill MT, Campbell M, Cassidy L, Humphries MM, Humphries P, The pathophysiology of cigarette smoking and age-related macular degeneration., Advances in Experimental Medicine and Biology, 664, (Part 4), 2010, p437-46
Palfi A, Millington-Ward S, Chadderton N, O'Reilly M, Goldmann T, Humphries MM, Li T, Wolfrum U, Humphries P, Kenna PF, Farrar GJ., Adeno-associated virus-mediated rhodopsin replacement provides therapeutic benefit in mice with a targeted disruption of the rhodopsin gene, Human Gene Therapy, 21, (3), 2010, p311-323
Lawrence C. S. Tam, Anna-Sophia Kiang, Matthew Campbell, James Keaney, G. Jane Farrar, Marian M. Humphries, Paul F. Kenna and Pete Humphries, Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90), Human Molecular Genetics, 19, (22), 2010, p4421-4436
Mansergh FC, Vawda R, Millington-Ward S, Kenna PF, Haas J, Gallagher C, Wilson J, Humphries P, Ader M, Farrar GJ., Loss of photoreceptor potential from retinal progenitor cell cultures, despite improvements in survival, Experimental Eye Research, 91, (4), 2010, p500 - 512
Tam LC, Kiang AS, Chadderton N, Kenna PF, Campbell M, Humphries MM, Farrar GJ, Humphries P, Protection of photoreceptors in a mouse model of RP10., Advances in Experimental Medicine and Biology, 664, (Part 5), 2010, p559-65
Jaissle, G.B., Albrecht May, C., Van De Pavert, S.A., Wenzel, A., Claes-May, E., Giel, A., Szurman, P., (...), Seeliger, M.W. , Erratum: Bone spicule pigment formation in retinitis pigmentosa: Insights from a mouse model (Graefe's Archive for Clinical and Experimental Ophthalmology DOI: 10.1007/s00417-009-1253-9), 2010, - 1365
Busskamp, V., Duebel, J., Balya, D., Fradot, M., Viney, T.J., Siegert, S., Groner, A.C., (...), Roska, B., Genetic reactivation of cone photoreceptors restores visual responses in retinitis pigmentosa, Science, 329, (5990), 2010, 413-417
McKee AG, Loscher JS, O'Sullivan NC, Chadderton N, Palfi A, Batti L, Sheridan GK, O'Shea S, Moran M, McCabe O, Fernández AB, Pangalos MN, O'Connor JJ, Regan CM, O'Connor WT, Humphries P, Farrar GJ, Murphy KJ., AAV-mediated chronic over-expression of SNAP-25 in adult rat dorsal hippocampus impairs memory-associated synaptic plasticity, Journal of Neurochemistry, 112, (4), 2010, p991-1004
Jaissle GB, May CA, van de Pavert SA, Wenzel A, Claes-May E, Gießl A, Szurman P, Wolfrum U, Wijnholds J, Fisher MD, Humphries P, Seeliger MW, Bone spicule pigment formation in retinitis pigmentosa: insights from a mouse model., Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2009
Balan G, Bauman J, Bhattacharya S, Castrodad M, Healy DR, Herr M, Humphries P, Jennings S, Kalgutkar AS, Kapinos B, Khot V, Lazarra K, Li M, Li Y, Neagu C, Oliver R, Piotrowski DW, Price D, Qi H, Simmons HA, Southers J, Wei L, Zhang Y, Paralkar VM, The discovery of novel calcium sensing receptor negative allosteric modulators., Bioorganic & Medicinal Chemistry Letters, 19, (12), 2009, p3328-32
Tanimoto, N, Muehlfriedel, RL, Fischer, MD, Fahl, E, Humphries, P, Biel, M, Seeliger, MW, Vision tests in the mouse: Functional phenotyping with electroretinography., Frontiers in Bioscience : A Journal and Virtual Library, 14, 2009, p2730 - 2737
Matthew Campbell, Anh T. H. Nguyen, Anna-Sophia Kiang, Lawrence C. S. Tam, Oliviero L. Gobbo, Christian Kerskens, Sorcha Ni Dhubhghaill, Marian M. Humphries, G.-Jane Farrar, Paul F. Kenna and Peter Humphries, An experimental platform for systemic drug delivery to the retina, Proceedings of the National Academy of Sciences of the United States, 106, (42), 2009, p17817 - 17822
Chadderton, N, Millington-Ward, S, Palfi, A, O'Reilly, M, Tuohy, G, Humphries, MM, Li, T, Humphries, P, Kenna, PF, Farrar, GJ, Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy., Molecular Therapy : The Journal of the American Society of Gene Therapy, 17, (4), 2009, p593-599
Humphries PS, Lafontaine JA, Agree CS, Alexander D, Chen P, Do QQ, Li LY, Lunney EA, Rajapakse RJ, Siegel K, Timofeevski SL, Wang T, Wilhite DM, Synthesis and SAR of 4-substituted-2-aminopyrimidines as novel c-Jun N-terminal kinase (JNK) inhibitors., Bioorganic and Medicinal Chemistry Letters, 19, (8), 2009, p2099-102
Bujakowska KM, Maubaret C, Chakarova CF, Tanimoto N, Beck SC, Fahl E, Humphries MM, Kenna P, Makarov E, Makarova O, Paquet-Durand F, Ekström P, van Veen T, Leveillard T, Humphries P, Seeliger M, Bhattacharya SS, Study of gene targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP), Investigative Ophthalmology & Visual Science, 50, (12), 2009
Huber G, Beck SC, Grimm C, Sahaboglu-Tekgoz A, Paquet-Durand F, Wenzel A, Humphries P, Redmond TM, Seeliger MW, Fischer MD, Spectral domain optical coherence tomography in mouse models of retinal degeneration., Investigative Ophthalmology & Visual Science, 50, (12), 2009, p5888-5895
Trümpler, J, Dedek, K, Schubert, T, de Sevilla Müller, LP, Seeliger, M, Humphries, P, Biel, M, Weiler, R, Rod and cone contributions to horizontal cell light responses in the mouse retina., The Journal of Neuroscience, 28, (27), 2008, p6818-6825
Loscher, CJ, Hokamp, K, Wilson, JH, Li, T, Humphries, P, Farrar, GJ, Palfi, A, A common microRNA signature in mouse models of retinal degeneration., Experimental eye research, 87, (6), 2008, p529 - 534
D. Allen, E. Winters, P. Kenna, P. Humphries, J. Farrar, Reference gene selection for real-time rtPCR in human epidermal keratinocytes, Journal of Dermatological Science, 49, (3), 2008, p217 - 225
O'Reilly, M, Millington-Ward, S, Palfi, A, Chadderton, N, Cronin, T, McNally, N, Humphries, MM, Humphries, P, Kenna, PF, Farrar, GJ, A transgenic mouse model for gene therapy of rhodopsin-linked Retinitis Pigmentosa., Vision Research, 48, (3), 2008, p386-391
U. Bartsch, W. Oriyakhel, P. Kenna, S. Linke, G. Richard, B. Petrowitz, P. Humphries, J. Farrar, M. Ader, Retinal cells integrate into the outer nuclear layer and differentiate into mature photoreceptors after sub-retinal transplantation into adult mice, Experimental Eye Research, 86, (4), 2008, p691 - 700
Campbell, M, Kiang, AS, Kenna, PF, Kerskens, C, Blau, C, O'Dwyer, L, Tivnan, A, Kelly, JA, Brankin, B, Farrar, GJ, Humphries, P, RNAi-mediated reversible opening of the blood-brain barrier., The Journal of Gene Medicine, 10, (8), 2008, p930 - 947
A. Reynolds, G.J. Farrar, P. Humphries, P. Kenna, Variation in the electroretinogram of C57BL/6J sub-strains of mouse, Advances in Experimental Medical Biology, 613, 2008, p383 - 391
N. Chadderton, S. Millington-Ward, S. Palfi, M, O'Reilly, G. Touhy, M. Humphries, P. Kenna, J. Farrar, Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy, Molecular Therapy, 17, (4), 2008, p593 - 599
Tam, LC, Kiang, AS, Kennan, A, Kenna, PF, Chadderton, N, Ader, M, Palfi, A, Aherne, A, Ayuso, C, Campbell, M, Reynolds, A, McKee, A, Humphries, MM, Farrar, GJ, Humphries, P, Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)., Human Molecular Genetics, 17, (14), 2008, p2084-2100
Reynolds, AL, Danciger, M, Farrar, GJ, Humphries, P, Kenna, PF, Influence of a quantitative trait locus on mouse chromosome 19 to the light-adapted electroretinogram., Investigative ophthalmology & visual science, 49, (9), 2008
Campbell, M, Humphries, M, Kenna, P, Humphries, P, Brankin, B, Altered expression and interaction of adherens junction proteins in the developing OLM of the Rho(-/-) mouse., Experimental Eye Research, 85, (5), 2007, p714-720
O'Reilly, M, Palfi, A, Chadderton, N, Millington-Ward, S, Ader, M, Cronin, T, Tuohy, T, Auricchio, A, Hildinger, M, Tivnan, A, McNally, N, Humphries, MM, Kiang, AS, Humphries, P, Kenna, PF, Farrar, GJ, RNA interference-mediated suppression and replacement of human rhodopsin in vivo., American Journal of Human Genetics, 81, (1), 2007, p127-135
D. Allen, P.F. Kenna, A. Palfi, H.P. McMahon, S. Millington-Ward, M. O'Reilly, P. Humphries and G.J. Farrar, Development of strategies for conditional RNA interference, Journal of Gene Medicine, 9, (4), 2007, p287 - 98
Loscher, CJ, Hokamp, K, Kenna, PF, Ivens, AC, Humphries, P, Palfi, A, Farrar, GJ, Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa., Genome biology, 8, (11), 2007
Campbell M, Humphries MM, Kennan A, Kenna PF, Humphries P and Brankin B., Aberrant Retinal Tight Junction and Adherens junction protein expression in an animal model of autosomal recessive retinitis pigmentosa: The Rho (-/-) mouse, Exp. Eye Res, 83, (3), 2006, p484 - 492
De Goover TE, Stevenson KA, Humphries P, Simpson DA, Gardiner TA and Stitt AW, Retinopathy is reduced during experimental diabetes in a mouse model of outer retinal degeneration, Invest Ophthalmol Vis Sci., 47, (12), 2006, p5561 - 5568
Palfi A, Kiang A-S, O'Reilly M, Millington-Ward S, Kenna P, Humphries P and Farrar GJ, RNAi-based suppression and replacement of RDS-Peripherin in retinal organotypic culture, Human Mutation, 27, (3), 2006, p260 - 268
Aherne A, Kennan A, Kenna PE, McNally N, Farrar GJ, Humphries P, Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations, RETINAL DEGENERATIVE DISEASES ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY, 572, 2006, p81 - 87
Haverkamp S, Michalakis S, Claes E, Seeliger MW, Humphries P, Biel M and Feigenspan A., Synaptic plasticity in GNGA3-/- mice: Cone bipolar cells react up0onthe missing cone input and form ectopic synapses with rods, Journal of Neuroscience, 26, (19), 2006, p5248 - 5255
De Goover TE, Stevenson KA, Humphries P, Simpson DA, Curtis TM, Gardiner TA and Stitt AW., Rod photoreceptor loss in Rho-/- mice reduces retinal hypoxia and hypoxia-regulated gene expression, Invest Ophthalmol Vis Sci, 47, (12), 2006, p5553 - 5560
Kiang A-S, Palfi A, Ader M, Kenna PF, Millington-Ward, Clark G, Kennan A, O'Reilly M, Tam LCT, Aherne A, McNally N, Humphries P and Farrar GJ, Toward a gene therapy for dominant disease: validation of an RNA interference-based mutation-independent approach, Molecular Therapy, 12, (3), 2005, p555 - 561
Rohrer B, Lohr HR, Humphries P, Redmond MT, Seeliger MW and Crouch RK, Cone opsin mislocalization in Rpe65-/- mice: A defect that can be corrected by 11-cis retinal, Investigative Ophthalmology and Visual Science, 46, (10), 2005, p3876 - 3881
Kennan A, Aherne and Humphries P, Light in retinitis pigmentosa, Trends in Genetics, 21, (2), 2005, p103 - 110
Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations in, editor(s)Joe G. Hollyfield, Robert E. Anderson, and Matthew M. LaVail , Retinal Degenerative Diseases, New York, NY, Springer, 2005, [Aherne. A., Kennan. A., Kenna, P.F, McNally, N., Farrar, G.J, Humphries, P.]
Schmucker C, Seeliger M, Humphries P, Biel M and Schaeffel F, Grating acuity at different luminances in wild-type mice and in mice lacking rod or cone function, Invest Ophthalmol Vis Sci, 46, (1), 2005, p398 - 407
Aherne A, Kennan A, Kenna PF, McNally N, Lloyd DG, Alberts IL, Kaing A-S, Humphries MM, Ayuso C, Engel PC, Gu JJ, Mitchell BS, Farrar GJ and Humphries P., On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa, Hum Mol Genet, 13, (6), 2004, p641 - 650
Claes E, Seeliger M, Michalakis S, Biel M, Humphries P and Haverkamp S, Morphological characterization of the retina of the CNGA3(-/-)Rho(-/-) mutant mouse lacking functional cones and rods, Investigative Ophthalmology and Visual Science., 45, (6), 2004, p2039 - 2048
Barnard AR, Appleford JM, Sekaran S, Chinthapalli K, Jenkens A, Seeliger M, Biel M, Humphries P, Douglas RH, Wenzel A, Foster RG, Hankins MW and Lucas RJ, Residual photosensitivity in mice lacking both rod opsin and cone photoreceptor cyclic nucleotide gated channel 3 alpha subunit, Visual Neuroscience, 21, 2004, p675 - 683
Millington-Ward SM, McMahon HP, Allen D, Tuohy G, Kiang A-S, Palfi A, Kenna PF, Humphries P and GJ Farrar, RNAi of COL1A1 in mesenchymal progenitor cells, European Journal of Human Genetics, 12, (10), 2004, p864 - 866
Aherne A, Kennan A, Kenna PF, McNally N, Lloyd DG, Alberts IL, Kaing A-S, Humphries MM, Ayuso C, Engel PC, Gu JJ, Mitchell BS, Farrar GJ and Humphries P., On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa, HUMAN MOLECULAR GENETICS, 13, (6), 2004, p641 - 650
Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, and Sullivan LS, Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosxa 1 (RP1) gene, Molecular Vision, 24, (9), 2003, p129 - 137
Kerman A, Aherne A, Bowne SJ, Daiger SP, Farrar GJ, Kenna PF, Humphries P, On the role of IMPDH1 in retinal degeneration, RETINAL DEGENERATIONS: MECHANISMS AND EXPERIMENTAL THERAPY ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY, 533, 2003, p13 - 18
Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR, RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP, Advances in Experimental Medicine and Biology , 533, 2003, p1 - 11
Keegan D, Kenna PF, Humphries MM, Humphries P, Flitcroft DI, Coffey PJ, Lund RD and Lawrence JM, Transplantation of syngeneic schwann cells to the retina of the rhodopsin knockout (Rho-/-) mouse, Investigative Ophthalmology and Visual Science, 44, (8), 2003, p3526 - 3532
Kennan, A, Aherne A, Bowne SJ, Daiger SP, Farrar GJ, Kenna PF and Humphries P., On the role of IMPDH1 in retinal degeneration. Retinal Degenerations: Mechanisms and Experimental Therapy, Kluwer Academic, Plenum Publishers, 2003
Kennan A, Aherne A, Palfi A, Humphries MM, Stitt A, Simpson D, Demtroder K, Orntoft T. Ayuso C, Kenna PF, Farrar GJ and Humphries P. , Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-\- mice, Human Mol Genet, 11, (5), 2002, p547 - 558
Farrar GJ, Kenna PF, Humphries P., On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention, by Kenna, P. F. , EMBO Journal, 21, 2002
McNally N, Kenna P, Rancourt D, Ahmed T, Stitt A, Colledge W, Llyod D, O'Neill B, Humphries MM, Humphries P and Farrar GJ, Dominant retinopathy induced in mice by targeted single base deletion at codon 307 of the rds-pheripherin gene, Hum Mol Genet, 11, (9), 2002, p1005 - 1016
Sophia Millington-Ward, Carolina Allers, Gearóid Tuohy, Paulette Conget, Danny Allen, Helena P. McMahon, Paul F. Kenna, Peter Humphries and G. Jane Farrar, Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta, Human Molecular Genetics, 11, (19), 2002, p2201 - 2206
Farrar GJ, Kenna P and Humphries P., Molecular genetics of Retinitis Pigmentosa: mutation independent approaches to therapy, EMBO, 21, (5), 2002, p857 - 864
KENNAN, A, AHERNE, A, PALFI, A, HUMPHRIES, M, MCKEE, A, STITT, A, SIMPSON, DAC, DEMTRODER, K, ORNTOFT, T, AYUSO, C, KENNA, PF, FARRAR, GJ, HUMPHRIES, P, IDENTIFICATION OF AN IMPDH1 MUTATION IN AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (RP10) REVEALED FOLLOWING COMPARATIVE MICROARRAY ANALYSIS OF TRANSCRIPTS DERIVED FROM RETINAS OF WILD-TYPE AND RHO(-/-) MICE, HUMAN MOLECULAR GENETICS, 11, 2002, p547 - 557
Millington-Ward S, Allers C, Tuohy G, Conget P, Allen D, McMahon HP, Kenna PF, Humphries P and Farrar GJ, Validation in human mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for Osteogenesis Imperfecta, Hum Mol Genet, 11, (19), 2002, p2201 - 2206
Gearo"id Tuohy, Sophia Millington-Ward, Paul F. Kenna, Peter Humphries, and G. Jane Farrar, Sensitivity of Photoreceptor-Derived Cell Line (661W) to Baculoviral p35, Z-VAD.FMK, and Fas-Associated Death Domain , Investigative Ophthalmology and Visual Science, 43, 2002, p3583 - 3589
Tuohy, G, Kenna P, Humphries P and Farrar GJ., Baculoviral p35 inhibition of apoptosis in 661W cone photoreceptor cells, Invest Ophthalmol Vis Sci, 43, (11), 2002, p3583 - 3589
McNally N, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge WH, Lloyd DG, Palfi A, O'Neill B, Humphries MM, Humphries P, Farrar GJ, Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene, Human Molecular Genetics, 11, (9), 2002, p1005 - 1016
TUOHY, G, INHIBITION OF CASPASE ACTIVITY AND PREVENTION OF APOPTOSIS IN 661W CONE PHOTORECEPTOR CELLS., unknown, 2001, 69, ISI Web of Science, 2001, pp678 - 678
Humphries MM, Kiang S, McNally N, Donovan M, Sieving PA, Bush RA, Machida S, Cotter T, Hobson A, Farrar GJ, Humphries P and Kenna P., Comparative structural and functional analysis of photoreceptor neurones of Rho-/- mouse reveal increased survival on C57BL/6J in comparison to 129Sv genetic background, Vis Neurosci, 18, 2001, p437 - 443
SEELIGER, MW, GRIMM, C, STAHLBERG, F, FRIEDBURG, C, JAISSLE, G, ZRENNER, E, GUO, H, REME, CE, HUMPHRIES, P, HOFMANN, F, BIEL, M, FARISS, RN, REDMOND, TM, WENZEL, A, NEW VIEWS ON RPE65 DEFICIENCY: THE ROD SYSTEM IS THE SOURCE OF VISION IN A MOUSE MODEL OF LEBER CONGENITAL AMAUROSIS, NATURE GENETICS, 29, 2001, p70 - 74
HUMPHRIES, MM, KIANG, S, MCNALLY, N, DONOVAN, MA, SIEVING, P, BUSH, RA, MACHIDA, S, COTTER, T, HOBSON, A, FARRAR, J, HUMPHRIES, P, KENNA, P, COMPARATIVE STRUCTURAL AND FUNCTIONAL ANALYSIS OF PHOTORECEPTOR NEURONS OF RHO-/- MICE REVEAL INCREASED SURVIVAL ON C57BL/6J IN COMPARISON TO 129SV GENETIC BACKGROUND, VISUAL NEUROSCIENCE, 18, 2001, p437 - 443
ONEILL, BG, MUTATION-INDEPENDENT RIBOZYME-BASED THERAPIES FOR RETINITIS PIGMENTOSA., unknown, 2001, 69, ISI Web of Science, 2001, pp677 - 677
Seeliger M, Grimm C, Stahlberg F, Frieburg C, Jassle G, Zrenner E, Gue H, Reme C, Humphries P, Hofman F, Biel M, Fariss R, Redmond T and Wenzel A., New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis, Nature Genet, 29, (1), 2001, p70 - 74
FARRAR, GJ, MUTATION-INDEPENDENT THERAPEUTIC STRATEGIES FOR OSTEOGENESIS IMPERFECTA., unknown, 2001, 69, ISI Web of Science, 2001, pp675 - 675
OREILLY, M, IN VIVO SELECTION FROM A PHAGE DISPLAY LIBRARY OF PEPTIDES CAPABLE OF TARGETING THE RETINA., unknown, 2001, 69, ISI Web of Science, 2001, pp677
BOWNE, SJ, SULLIVAN, LS, DING, L, TRAER, E, PRESCOTT, SM, BIRCH, DG, KENNAN, A, HUMPHRIES, P, DAIGER, SP, EVALUATION OF HUMAN DIACYLGLYCEROL KINASE, DGKI, A HOMOLOG OF DROSOPHILA RDGA, IN INHERITED RETINOPATHY MAPPING TO 7Q, MOLECULAR VISION, 6, 2000, p6 - 9
ONEILL, B, MILLINGTON-WARD, S, OREILLY, M, TUOHY, G, KIANG, AS, KENNA, PF, HUMPHRIES, P, FARRAR, GJ, RIBOZYME-BASED THERAPEUTIC APPROACHES FOR AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA, INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 41, 2000, p2863 - 2869
BOWNE, SJ, SEARCHING FOR THE RP10 GENE: A MODEL FOR POSITIONAL CANDIDATE CLONING IN THE POST GENOME ERA., unknown, 2000, 67, ISI Web of Science, 2000, pp255 - 255
HOBSON, AH, DONOVAN, M, HUMPHRIES, MM, TUOHY, G, MCNALLY, N, CARMODY, R, COTTER, T, FARRAR, GJ, KENNA, PF, HUMPHRIES, P, APOPTOTIC PHOTORECEPTOR DEATH IN THE RHODOPSIN KNOCKOUT MOUSE IN THE PRESENCE AND ABSENCE OF C-FOS, EXPERIMENTAL EYE RESEARCH, 71, 2000, p247 - 254
O'Neill B, Millington-Ward S, O'Reilly M, Tuohy G, Kiang A-S, Kenna P, Humphries P and Farrar GJ., Ribozyme based therapeutic approaches for autosomal dominant Retinitis Pigmentosa, Invest Ophthalmol Vis Sci, 41, 2000, p2863 - 2869
MILLINGTON-WARD, S, ONEILL, B, KIANG, AS, HUMPHRIES, P, KENNA, PF, FARRAR, GJ, A MUTATION-INDEPENDENT THERAPEUTIC STRATEGEM FOR OSTEOGENESIS IMPERFECTA, ANTISENSE & NUCLEIC ACID DRUG DEVELOPMENT, 9, 2000, p537 - 542
Browne, SJ, Sullivan LS, Ding L, Traer E, Prescott SM, Birch DG, Kennan A, Humphries P and Daiger SP, Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q, Mol Vis, 22, (6), 2000, p6 - 9
Mansergh FC, Millington-Ward S, Kennan A, Kiang A-S, Humphries MM, Farrar GJ, Humphries P and Kenna PF., Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene, Am J of Hum Genet, 64, 1999, p971 - 985
MCNALLY, N, KENNA, P, HUMPHRIES, MM, HOBSON, AH, KHAN, NW, BUSH, RA, SIEVING, PA, HUMPHRIES, P, FARRAR, GJ, STRUCTURAL AND FUNCTIONAL RESCUE OF MURINE ROD PHOTORECEPTORS BY HUMAN RHODOPSIN TRANSGENE, HUMAN MOLECULAR GENETICS, 8, 1999, p1309 - 1312
AL-JANDAL, N, FARRAR, GJ, KIANG, AS, HUMPHRIES, MM, BANNON, N, FINDLAY, JBC, HUMPHRIES, P, KENNA, PF, A NOVEL MUTATION WITHOUT THE RHODOPSIN GENE (THR-94-ILE) CAUSING AUTOSOMAL DOMINANT CONGENITAL STATIONARY NIGHT BLINDNESS, HUMAN MUTATION, 13, 1999, p75 - 81
TODA, K, BUSH, RA, HUMPHRIES, P, SIEVING, PA, THE ELECTRORETINOGRAM OF THE RHODOPSIN KNOCKOUT MOUSE, VISUAL NEUROSCIENCE, 16, 1999, p391 - 398
MANSERGH, FC, MILLINGTON-WARD, S, KENNAN, A, KIANG, AS, HUMPHRIES, M, FARRAR, GJ, HUMPHRIES, P, KENNA, PF, RETINITIS PIGMENTOSA AND PROGRESSIVE SENSORINEURAL HEARING LOSS CAUSED BY A C12258A MUTATION IN THE MITOCHONDRIAL MTTS2 GENE, AMERICAN JOURNAL OF HUMAN GENETICS, 64, 1999, p971 - 985
McNally N, Kenna P, Humphries MM, Hobson AH, Khan NN, Bush RA, Sieving PA, Humphries P and Farrar GJ., Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene, Human Mol Genet, 8, 1999, p1309 - 1312
TUOHY, GP, IN VIVO ANALYSIS OF PHOTORECEPTOR DEGENERATION IN LIGHT-INDUCECD LACA MICE AND IN VITRO RIBOZYME CLEAVAGE OF KEY MRNA TARGETS INVOLVED IN APOPTOTIC MEDIATED CELL DEATH. IN VIVOLN VITRO., unknown, 1999, 65, ISI Web of Science, 1999, ppA503 - A503
Millington-Ward S, O'Neill B, Kiang A-S, Humphries P, Kenna PF and Farrar GJ. , A mutation-independent therapeutic stratagem for osteogenesis imperfecta, Antisense Nucleic Acids Drug Dev, 9, (6), 1999, p537 - 542
Mansergh F, Meitinger T, Rodolph G, Humphries P, Farrar GJ, Lack of evidence for genetic heterogeneity in Best vitelliform macular dystrophy, JOURNAL OF MEDICAL GENETICS, 35 (1), (JAN), 1998, p85 - 86
MILLINGTON-WARD, S, THREE STRATEGIES EXPLORED IN VITRO FOR GENE THERAPY OF DOMINANT AND POLYGENIC DISEASES., unknown, 1997, 61, ISI Web of Science, 1998, ppA357 - A357
MANSERGH, FC, TWO NOVEL MUTATIONS IN THE TIGR GENE IN PRIMARY OPEN ANGLE GLAUCOMA., unknown, 1997, 61, ISI Web of Science, 1998, ppA339 - A339
KENNAN, AM, MANSERGH, FC, FINGERT, JH, CLARK, T, AYUSO, C, KENNA, PF, HUMPHRIES, P, FARRAR, GJ, A NOVEL ASP380ALA MUTATION IN THE GLC1A/MYOCILIN GENE IN A FAMILY WITH JUVENILE ONSET PRIMARY OPEN ANGLE GLAUCOMA, JOURNAL OF MEDICAL GENETICS, 35, 1998, p957 - 960
MANSERGH, FC, KENNA, PF, AYUSO, C, KIANG, AS, HUMPHRIES, P, FARRAR, GJ, NOVEL MUTATIONS IN THE TIGR GENE IN EARLY AND LATE ONSET OPEN ANGLE GLAUCOMA, HUMAN MUTATION, 11, 1998, p244 - 251
MARTIN, M, TREATMENT OF RETINOBLASTOMA ARISING IN TRANSGENIC MICE WITH A HSV-1 DELETION MUTANT VIRUS., unknown, 1996, 3, ISI Web of Science, 1997, ppP42 - P42
BUSH, RA, PHOTORECEPTOR MORPHOLOGY IN RHODOPSIN KNOCKOUT MICE, unknown, 1997, 38, ISI Web of Science, 1997, pp3247 - 3247
BUSH, RA HUMPHRIES, P HUMPHRIES, MM FARRAR, GJ KENNA, P SIEVING, PA , PHOTORECEPTOR MORPHOLOGY IN RHODOPSIN KNOCKOUT MICE, INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE, 38, 1997, p3247
KENNA, P, MANSERGH, F, MILLINGTONWARD, S, ERVEN, A, KUMARSINGH, R, BRENNAN, R, FARRAR, GJ, HUMPHRIES, P, CLINICAL AND MOLECULAR GENETIC CHARACTERISATION OF A FAMILY SEGREGATING AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA AND SENSORINEURAL DEAFNESS, BRITISH JOURNAL OF OPHTHALMOLOGY, 81, 1997, p207 - 213
GARDINER, N, LAWLER, M, ORIORDAN, J, DEARCE, M, HUMPHRIES, P, MCCANN, SR, PERSISTENT DONOR CHIMAERISM IS CONSISTENT WITH DISEASE-FREE SURVIVAL FOLLOWING BMT FOR CHRONIC MYELOID LEUKAEMIA, BONE MARROW TRANSPLANTATION, 20, 1997, p235 - 241
Humphries MM, Rancourt D, Farrar GJ, Kenna P, Hazel M, Bush RA, Sieving PA, Sheils DM, McNally N, Creighton P, Erven A, Boros A, Gulya K, Capecchi MR and Humphries P., Retinopathy induced in mice by targeted disruption of the rhodopsin gene, Nature Genetics, 15, 1997, p216 - 219
TODA, K BUSH, RA HUMPHRIES, MM FARRER, GJ KENNA, P HUMPHRIES, P, SIEVING, PA, ERG OF THE RHODOPSIN KNOCKOUT MOUSE, INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE, 38, 1997, p4135
MILLINGTONWARD, S, ONEILL, B, TUOHY, G, ALJANDAL, N, KIANG, AS, KENNA, PF, PALFI, A, HAYDEN, P, MANSERGH, F, KENNAN, A, HUMPHRIES, P, FARRAR, GJ, STRATEGEMS IN VITRO FOR GENE THERAPIES DIRECTED TO DOMINANT MUTATIONS, HUMAN MOLECULAR GENETICS, 6, 1997, p1415 - 1426
HUMPHRIES, MM, RETINOPATHY INDUCED IN MICE BY TARGETED DISRUPTION OF THE RHODOPSIN GENE, NATURE GENETICS, 15, 1997, p216 - 219
TODA, K, ERG OF THE RHODOPSIN KNOCKOUT MOUSE., unknown, 1997, 38, ISI Web of Science, 1997, pp4135 - 4135
MCGUIRE, RE, JORDAN, SA, BRADEN, VV, BOUFFARD, GG, HUMPHRIES, P, GREEN, ED, DAIGER, SP, MAPPING THE RP10 LOCUS FOR AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA ON 7Q: REFINED GENETIC POSITIONING AND LOCALIZATION WITHIN A WELL-DEFINED YAC CONTIG, GENOME RESEARCH, 6, 1996, p255 - 266
MOLLOY, K, GOULDEN, N, LAWLER, M, CORNISH, J, OAKHILL, A, PAMPHILON, D, POTTER, M, STEWARD, C, LANGLANDS, K, HUMPHRIES, P, MCCANN, SR, PATTERNS OF HEMATOPOIETIC CHIMERISM FOLLOWING BONE MARROW TRANSPLANTATION FOR CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA FROM VOLUNTEER UNRELATED DONORS, BLOOD, 87, 1996, p3027 - 3031
HUMPHRIES, MM, MANSERGH, FC, KIANG, AS, JORDAN, SA, SHEILS, DM, MARTIN, MJ, FARRAR, GJ, KENNA, PF, YOUNG, MM, HUMPHRIES, P, THREE KERATIN GENE MUTATIONS ACCOUNT FOR THE MAJORITY OF DOMINANT SIMPLEX EPIDERMOLYSIS BULLOSA CASES WITHIN THE POPULATION OF IRELAND, HUMAN MUTATION, 8, 1996, p57 - 63
MANSERGH, F, HUMPHRIES, P, FARRAR, J, STILL NO EVIDENCE FOR HETEROGENEITY IN BEST'S VITELLIFORM MACULAR DYSTROPHY - REPLY, JOURNAL OF MEDICAL GENETICS, 33, 1996, 630 - 630
Mansergh FC, Kenna PF, Rudolph G, Meitinger T, Farrar GJ, Kumar-Singh R, Scorer J, Hally AM, Mynett-Johnson L, Humphries MM, Kiang S and Humphries P., Evidence for genetic heterogeneity in Best's Vitelliform Macular Dystrophy, J. Med. Genet, 32, 1995, p855 - 858
MCGUIRE, RE, GENETIC AND PHYSICAL MAPPING OF THE RP10 REGION, unknown, 1995, 57, ISI Web of Science, 1995, pp1534 - 1534
MANSERGH, FC, KENNA, PF, RUDOLPH, G, MEITINGER, T, FARRAR, GJ, KUMARSINGH, R, SCORER, J, HALLY, AM, MYNETTJOHNSON, L, HUMPHRIES, MM, KIANG, S, HUMPHRIES, P, EVIDENCE FOR GENETIC-HETEROGENEITY IN BESTS VITELLIFORM MACULAR DYSTROPHY, JOURNAL OF MEDICAL GENETICS, 32, 1995, p855 - 858
FARRAR, GJ KENNA, PF MANSERGH, F ERVEN, ASW HUMPHRIES, MM KENNEDY, S, SIEVING, P BUSH, R GULYA, K HUMPHRIES, P, PROGRESS IN GENETIC-LINKAGE FOR RETINITIS-PIGMENTOSA AND GENE DELIVERY TO OCULAR-TISSUES, INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE, 36, 1995, pS1045
MCCANN, S, LAWLER, M, GARDINER, N, HUMPHRIES, P, PROGNOSTIC-SIGNIFICANCE OF MIXED HEMATOPOIETIC CHIMERISM FOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANTATION, CHINESE MEDICAL JOURNAL, 107, 1995, p729 - 730
KENNA, PF, AN IRISH PEDIGREE SEGREGATING RETINITIS-PIGMENTOSA AND DEAFNESS, unknown, 1995, 36, ISI Web of Science, 1995, ppS1044 - S1044
FARRAR, GJ, PROGRESS IN GENETIC-LINKAGE FOR RETINITIS-PIGMENTOSA AND GENE DELIVERY TO OCULAR-TISSUES, unknown, 1995, 36, ISI Web of Science, 1995, ppS1045 - S1045
MCCANN, SR, LEUKEMIC TRANSFORMATION OF DONOR CELLS AFTER ALLOGENEIC BONE-MARROW TRANSPLANTATION (BMT), unknown, 1993, 21, ISI Web of Science, 1994, pp1065 - 1065
VANSOEST, S, VANDENBORN, LI, GAL, A, FARRAR, GJ, BLEEKERWAGEMAKERS, LM, WESTERVELD, A, HUMPHRIES, P, SANDKUIJL, LA, BERGEN, AAB, ASSIGNMENT OF A GENE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA (RP12) TO CHROMOSOME 1Q31-Q32.1 IN AN INBRED AND GENETICALLY HETEROGENEOUS DISEASE POPULATION, GENOMICS, 22, 1994, p499 - 504
Terrenato L, Jodice C, Loizedda A, Contu L, Buard J, Vergnaud G, Humphries P, Kumar-Singh R, Massart C and Cann H., The Eurogem Map of Chromosome 6, Eur. J. Hum. Genet, 2, 1994, p214 - 215
LAWLER, M, HUMPHRIES, P, OFARRELLY, C, HOEY, H, SHEILS, O, JEFFERS, M, OBRIAIN, DS, KELLEHER, D, ADENOVIRUS-12 E1A GENE DETECTION BY POLYMERASE CHAIN-REACTION IN BOTH THE NORMAL AND CELIAC DUODENUM, GUT, 35, 1994, p1226 - 1232
van Soest S, van den Born LI, Gal A, Farrar GJ, Bleeker Wagemakers L, Westerveld A, Humphries P, Sandkuijl LA and Bergen A., Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32 in an inbred and genetically heterogeneous disease population, Genomics, 22, 1994, p499 - 504
Mc Cann SR, Lawler M, Gardiner N, O'Riordan J, Humphries P., De Arce M. Donor leukemia following allogeneic bone marrow transplantation, Leukemia, 8, 1994, p133 - 135
Jordan S and Humphries P., Single nucleotide polymorphism in the transcribed region of the BCP gene on 7q31-35, Hum. Mol. Genet, 3, 1994, p1915 - 1925
Lawler M, Humphries P, O'Farrelly C, Hoey H, Sheils O, Jeffers M, O'Briain DS, Kelleher D., Adenovirus 12 E1A gene detection by polymerase chain reaction in both the normal and coeliac duodenum, Gut,, 35, (9), 1994, p1226 - 1232
MANSERGH FC, JORDAN SA, FARRAR GJ, KUMARSINGH R, GAL A, BHATTACHARYA S, HUMPHRIES P, 3 SEQUENCE POLYMORPHISMS IN THE PDC GENE, HUMAN MOLECULAR GENETICS , 3 (11), (NOV), 1994, p2077
HUMPHRIES, P, KENNA, P, FARRAR, GJ, NEW DIMENSIONS IN MACULAR DYSTROPHIES, NATURE GENETICS, 8, 1994, 315 - 317
FUCHS S, KRANICH H, DENTON MJ, ZRENNER E, BHATTACHARYA SS, HUMPHRIES P, GAL A, 3 NOVEL RHODOPSIN MUTATIONS (C110F, L131P, A164V) IN PATIENTS WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, HUMAN MOLECULAR GENETICS , 3 (7), (JUL), 1994, p1203
KUMARSINGH, R, LINKAGE MAPPING OF THE RHODOPSIN GENE AND THE MICROSATELLITE MARKER D3S621, unknown, 1994, 65, ISI Web of Science, 1994, pp39 - 39
Kumar-Singh R, He Wang K, Carritt B and Humphries P., The 'Eurogem' map of human chromosome 1, Eur. J. Hum. Genet, 2, 1994, p204 - 205
Autosomal Dominant Retinitis Pigmentosa. The Molecular Genetics of Inherited Eye Disorders: in, editor(s)AF Wright & B Jay. , Modern Genetics 2, 1994, pp153 - 172 , [Humphries P, Kenna P and Farrar GJ.]
JORDAN SA, HUMPHRIES P, SINGLE NUCLEOTIDE POLYMORPHISM IN EXON-2 OF THE BCP GENE ON 7Q31-Q35, HUMAN MOLECULAR GENETICS, 3 (10), (OCT), 1994, p1915
Fuchs S, Kranich H, Denton JJ, Zrenner E, Bhattacharya SS, Humphries P and Gal A, Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa, Hum. Mol. Genet, 3, 1994, p1203-
Mansergh FC, Jordan S, Farrar GJ, Kumar-Singh R and Humphries P., Three sequence poymorphisms in the phosducin (PDC) gene on chromosome 1q25-32, Hum. Mol. Genet, 3, 1994, p2077 - 2097
MCCANN, SR, LAWLER, M, GARDINER, N, ORIORDAN, J, HUMPHRIES, P, DEARCE, M, DONOR LEUKEMIA FOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANTATION, LEUKEMIA, 8, 1994, pS133 - S136
Extensive Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmenotsa in, editor(s)Eds. Hollyfield et al , Retinal Degeneration, New York, Plenum Press, 1993, pp63-77 , [Farrar GJ, Jordan SA, Kumar-Singh R, Inglehearn CF, Gal A, Gregory C, AI-Maghtheh M, Kenna PF, Humphries MM, Sharp EM, Sheils D, Gunge S, Hargrave PA, Denton MJ, Schwinger E, Bhattacharya SS and Humphries P. ]
Jordan SA, Farrar GJ, Kenna P, Humphries MM, Sheils D, Kumar-Singh R, Sharp EM, Soriano N, Ayuso C, Benitez J and Humphries P. , Localisation of an autosomal dominant retinitis pigmentosa gene to chromosome 7q, Nature Genetics, 4, 1993, p54 - 57
Pamphilon DH, Cornish JM, Goodman S, Ball L, Lawler M, McCann S, Humphries P, Oakhill A., Successful second unrelated donor BMT in a child with juvenile chronic myeloid leukaemia: documentation of chimaerism using the polymerase chain reaction., Bone Marrow Transplant, 11, (1), 1993, p81 - 84
Kumar-Singh R, Wang H, Humphries P and Farrar GJ., Autosomal dominant retinitis pigmentosa: no evidence for non-allelic genetic heterogeneity on chromosome 3q, Am. J. Hum. Genet, 52, 1993, p319 - 326
GANNON, AM, MUTATIONS IN PERIPHERIN RDS IN PATIENTS WITH RETINITIS-PIGMENTOSA - A 12 BASE-PAIR DELETION IN EXON-2, unknown, 1993, 53, ISI Web of Science, 1993, pp1160 - 1160
KUMARSINGH R, HUMPHRIES P, ISOLATION AND GENETIC-MAPPING OF 4 MICROSATELLITE REPEATS FROM CHROMOSOME-3P21 USING 40 CEPH PEDIGREES, GENOMICS, 18 (3), (DEC), 1993, p717 - 719
Humphries P., Hereditary Retinopathies: insights into a complex genetic etiology, Brit. J. Ophthalmol, `77, ( ), 1993, p469 - 470
Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P., A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex, Hum Mutat, 2, (1), 1993, p37 - 42
Kumar-Singh R, Farrar CF, Mansergh F, Kenna P, Bhattacharya S, Gal A and Humphries P., Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8), Hum.Mol.Genet, 2, 1993, p875 - 878
INGLEHEARN C, FARRAR J, DENTON M, GAL A, HUMPHRIES P, BHATTACHARYA S, EVIDENCE AGAINST A 2ND AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA LOCUS CLOSE TO RHODOPSIN ON CHROMOSOME-3Q, AMERICAN JOURNAL OF HUMAN GENETICS, 53 (2), (AUG), 1993, p536 - 537
HUMPHRIES, P, FARRAR, GJ, KENNA, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - MOLECULAR, GENETIC AND CLINICAL ASPECTS, PROGRESS IN RETINAL RESEARCH, 12, 1993, p231 - 245
KUMAR-SINGH, R, EXCLUSION OF THE INVOLVEMENT OF ALL KNOWN RETINITIS-PIGMENTOSA LOCI IN THE DISEASE PRESENT IN A FAMILY OF IRISH ORIGIN PROVIDES EVIDENCE FOR A 6TH-AUTOSOMAL DOMINANT LOCUS (RP8), HUMAN MOLECULAR GENETICS, 2, 1993, p875 - 878
PAMPHILON, DH, CORNISH, JM, GOODMAN, S, BALL, L, LAWLER, M, MCCANN, S, HUMPHRIES, P, OAKHILL, A, SUCCESSFUL 2ND UNRELATED DONOR BMT IN A CHILD WITH JUVENILE CHRONIC MYELOID-LEUKEMIA - DOCUMENTATION OF CHIMERISM USING THE POLYMERASE CHAIN-REACTION, BONE MARROW TRANSPLANTATION, 11, 1993, p81 - 84
BASCOM RA, LIU L, HUMPHRIES P, FISHMAN GA, MURRAY JC, MCINNES RR, POLYMORPHISMS AND RARE SEQUENCE VARIANTS AT THE ROM1 LOCUS, HUMAN MOLECULAR GENETICS , 2 (11), (NOV), 1993, p1975 - 1977
HUMPHRIES, P, HEREDITARY RETINOPATHIES - INSIGHTS INTO A COMPLEX GENETIC ETIOLOGY, BRITISH JOURNAL OF OPHTHALMOLOGY, 77, 1993, 469 - 470
Kumar-Singh R and Humphries P., Isolation and genetic mapping of four microsatellite repeats from chromosome 3p21 using 40 CEPH pedigrees, Genomics, 18, 1993, p717 - 719
KUMARSINGH, R, WANG, H, HUMPHRIES, P, FARRAR, GJ, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - NO EVIDENCE FOR NONALLELIC GENETIC-HETEROGENEITY ON 3Q, AMERICAN JOURNAL OF HUMAN GENETICS, 52, 1993, p319 - 326
JORDAN, SA, FARRAR, GJ, KENNA, P, HUMPHRIES, MM, SHEILS, DM, KUMARSINGH, R, SHARP, EM, SORIANO, N, AYUSO, C, BENITEZ, J, HUMPHRIES, P, LOCALIZATION OF AN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA GENE TO CHROMOSOME-7Q, NATURE GENETICS, 4, 1993, p54 - 58
JORDAN, SA, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP) - LOCALIZATION OF A GENE SEGREGATING IN AN IRISH FAMILY TO CHROMOSOME-6P, unknown, 1993, 62, ISI Web of Science, 1993, pp81 - 81
HUMPHRIES, MM, SHEILS, DM, FARRAR, GJ, KUMARSINGH, R, KENNA, PF, MANSERGH, FC, JORDAN, SA, YOUNG, M, HUMPHRIES, P, A MUTATION (MET-]ARG) IN THE TYPE-I KERATIN (K14) GENE RESPONSIBLE FOR AUTOSOMAL-DOMINANT EPIDERMOLYSIS-BULLOSA SIMPLEX, HUMAN MUTATION, 2, 1993, p37 - 42
KUMARSINGH R, KENNA PF, FARRAR GJ, HUMPHRIES P, EVIDENCE FOR FURTHER GENETIC-HETEROGENEITY IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA, GENOMICS, 15 (1), (JAN), 1993, p212 - 215
Farrar GJ, Findlay JBC, Kumar-Singh R, Kenna P, Humphries MM, Sharp E and Humphries P., Autosomal dominant retinitis pigmentosa: A novel mutation in the rhodopsin gene in the original 3q linked family, Hum. Mol. Genet, 9, 1993, p769 - 771
Humphries P, Kenna P and Farrar GJ, On the molecular genetics of retinitis pigmentosa, Science, 256, 1992, p804 - 808
Inglehern CF, Lester DH, Bashir R, Atif U, Keen J, Sertedaki A, Linksey J, Jay M, Bird AC, Farrar GJ, Humphries P and Bhattacharya SS, Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin linked retinitis pigmentosa families, Am. J. Hum. Genet, 50, 1992, p590
Jordan SA, del Rio T, Soriano N, Garcia-Sandoval B, Kenna P, Ayuso C, Benitez I and Humphries P. , Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus, Hum. Mol. Genet, 1, (6), 1992, p411 - 415
Horn M, Farrar GJ, Kunisch M, Marchese C, Apfelstedt-Sylla E, Fugi L, Zrenner E, Kenna P, Gal A and Humphries P. , Deletions in exon 5 of the human rhodopsin gene causing shift in the reading frame and autosomal dominant retinitis pigmentosa, Human Genetics, 90, 1992, p255 - 257
Humphries P, Farrar GJ and Kenna P., Autosomal Dominant Retinitis Pigmentosa: Molecular Genetic and Clinical Aspects, Prog. Ret. Res., 12, 1992, p231 - 245
Humphries MM, Sheils DM, Jordan SA, Farrar GJ, Kumar-Singh R and Humphries P., Alu polymorphism in the human type I Keratin (KRT14) gene, Human Mol Genet, 1, (6), 1992, p453-
HUMPHRIES, P, KENNA, P, FARRAR, GJ, ON THE MOLECULAR-GENETICS OF RETINITIS-PIGMENTOSA, SCIENCE, 256, 1992, p804 - 808
HAMOSH, A, KING, TM, ROSENSTEIN, BJ, COREY, M, LEVISON, H, DURIE, P, TSUI, LC, MCINTOSH, I, KESTON, M, BROCK, DJH, MACEK, M, ZEMKOVA, D, KRASNICANOVA, H, VAVROVA, V, MACEK, M, GOLDER, N, SCHWARZ, MJ, SUPER, M, WATSON, EK, WILLIAMS, C, BUSH, A, OMAHONEY, SM, HUMPHRIES, P, DEARCE, MA, REIS, A, BURGER, J, STUHRMANN, M, SCHMIDTKE, J, WULBRAND, U, DORK, T, TUMMLER, B, CUTTING, GR, CYSTIC-FIBROSIS PATIENTS BEARING BOTH THE COMMON MISSENSE MUTATION GLY -] ASP AT CODON 551 AND THE DELTA-F508 MUTATION ARE CLINICALLY INDISTINGUISHABLE FROM DELTA-F508 HOMOZYGOTES, EXCEPT FOR DECREASED RISK OF MECONIUM ILEUS, AMERICAN JOURNAL OF HUMAN GENETICS, 51, 1992, p245 - 250
BLUNDELL EL, PAMPHILON DH, ANDERSON NA, SLADE RR, BURTON PA, MARTIN A, RAY T, BRADLEY BA, LAWLER M, HUMPHRIES P, MCCANN SR, TRANSFUSION-ASSOCIATED GRAFT-VERSUS-HOST DISEASE, MONOCLONAL GAMMOPATHY AND PCR, BRITISH JOURNAL OF HAEMATOLOGY, 82 (3), (NOV), 1992, p622 - 623
JORDAN, SA, FARRAR, GJ, KUMARSINGH, R, KENNA, P, HUMPHRIES, MM, ALLAMAND, V, SHARP, EM, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP-RP6) - COSEGREGATION OF RP6 AND THE PERIPHERIN-RDS LOCUS IN A LATE-ONSET FAMILY OF IRISH ORIGIN, AMERICAN JOURNAL OF HUMAN GENETICS, 50, 1992, p634 - 639
HORN, M, HUMPHRIES, P, KUNISCH, M, MARCHESE, C, APFELSTEDTSYLLA, E, FUGI, L, ZRENNER, E, KENNA, P, GAL, A, FARRAR, J, DELETIONS IN EXON-5 OF THE HUMAN RHODOPSIN GENE CAUSING A SHIFT IN THE READING FRAME AND AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA, HUMAN GENETICS, 90, 1992, p255 - 257
FARRAR GJ, KENNA P, JORDAN SA, KUMARSINGH R, HUMPHRIES MM, SHARP EM, SHEILS D, HUMPHRIES P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - A NOVEL MUTATION AT THE PERIPHERIN/RDS LOCUS IN THE ORIGINAL 6P-LINKED PEDIGREE, GENOMICS, 14 (3), (NOV), 1992, p805 - 807
McCann SR, Lawler M, Humphries P, Bacigalupo A, Podesta M, Frassoni F, Van Lint MT, Marmont A., Recurrence of Philadelphia chromosome-positive leukemia in donor cells after marrow transplantation for chronic granulocytic leukemia: confirmation by microsatellite studies, Blood, 15, (79(10)), 1992, p2803 - 2805
MCCANN, SR, LAWLER, M, HUMPHRIES, P, BACIGALUPO, A, PODESTA, M, FRASSONI, F, VANLINT, MT, MARMONT, A, RECURRENCE OF PHILADELPHIA CHROMOSOME-POSITIVE LEUKEMIA IN DONOR CELLS AFTER MARROW TRANSPLANTATION FOR CHRONIC GRANULOCYTIC-LEUKEMIA - CONFIRMATION BY MICROSATELLITE STUDIES, BLOOD, 79, 1992, 2803 - 2805
Bleeker-Wagemarkers L, Bergen O, Gal A, Kumar-Singh R, Kenna P, Humphries P and Farrar GJ, Retinitis pigmentosa: exclusion of a locus from the long arm of chromosome 3 in the region of the rhodopsin gene provides evidence of genetic heterogeneity in the autosomal recessive form of the disease, Genomics, 14, 1992, p811 - 812
HUMPHRIES, MM SHEILS, D YOUNG, M FARRAR, GJ HUMPHRIES, P, GENETIC-LINKAGE ANALYSIS IN A PEDIGREE WITH AUTOSOMAL DOMINANT SIMPLEX EPIDERMOLYSIS-BULLOSA, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 98 , 1992, p397
HUMPHRIES, MM, GENETIC-LINKAGE ANALYSIS IN A PEDIGREE WITH AUTOSOMAL DOMINANT SIMPLEX EPIDERMOLYSIS-BULLOSA, unknown, 1992, 98, ISI Web of Science, 1992, pp397 - 397
INGLEHEARN, CF, LESTER, DH, BASHIR, R, ATIF, U, KEEN, TJ, SERTEDAKI, A, LINDSEY, J, JAY, M, BIRD, AC, FARRAR, GJ, HUMPHRIES, P, BHATTACHARYA, SS, RECOMBINATION BETWEEN RHODOPSIN AND LOCUS D3S47 (C17) IN RHODOPSIN RETINITIS-PIGMENTOSA FAMILIES, AMERICAN JOURNAL OF HUMAN GENETICS, 50, 1992, p590 - 597
DENTON, MJ, A POSSIBLE 2ND LOCUS FOR AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA MAPS ON 3Q AND IS CLOSELY LINKED TO D3S20, unknown, 1991, 58, ISI Web of Science, 1992, pp1875
DEARCE, MA, COSTIGAN, C, GOSDEN, JR, LAWLER, M, HUMPHRIES, P, FURTHER EVIDENCE CONSISTENT WITH YQH AS AN INDICATOR OF RISK OF GONADAL BLASTOMA IN Y-BEARING MOSAIC TURNER SYNDROME, CLINICAL GENETICS, 41, 1992, p28 - 32
JORDAN, SA, GENETIC-LINKAGE STUDIES OF A LATE ONSET AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA FAMILY USING MICROSATELLITES, unknown, 1991, 58, ISI Web of Science, 1992, pp2114 - 2114
CREIGHTON P, EGGEN A, FRIES R, JORDAN SA, HETZEL J, CUNNINGHAM EP, HUMPHRIES P, MAPPING OF BOVINE MARKERS CYP21, PRL, AND BOLA DRBP1 BY GENETIC-LINKAGE ANALYSIS IN REFERENCE PEDIGREES, GENOMICS, 14 (2), (OCT), 1992, p526 - 528
LI, Y, MULLER, B, FUHRMANN, C, VANNOUHUYS, CE, LAQUA, H, HUMPHRIES, P, SCHWINGER, E, GAL, A, THE AUTOSOMAL DOMINANT FAMILIAL EXUDATIVE VITREORETINOPATHY LOCUS MAPS ON 11Q AND IS CLOSELY LINKED TO D11S533, AMERICAN JOURNAL OF HUMAN GENETICS, 51, 1992, p749 - 754
Kumar-Singh R, Kenna P, Farrar GJ and Humphries P. , Evidence for further genetic heterogeneity in autosomal dominant retinitis pigmentosa, Genomics, 15, 1992, p212 - 215
Jordan SA, Farrar GJ, Kenna P and Humphries P., Polymorphic variation within 'conserved' sequences at the 3, end of the human RDS gene which results in amino acid substitutions, Human Mutation, 1, (3), 1992, p240 - 247
BLEEKERWAGEMAKERS LM, GAL A, KUMARSINGH R, VANDENBORN LI, LI Y, SCHWINGER E, SANDKUIJL LA, BERGEN AAB, KENNA P, HUMPHRIES P, FARRAR GJ, EVIDENCE FOR NONALLELIC GENETIC-HETEROGENEITY IN AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA, GENOMICS, 14 (3), (NOV), 1992, p811 - 812
DOAK S, JORDAN S, MCWILLIAM P, HUMPHRIES P, TETRANUCLEOTIDE REPEAT POLYMORPHISM AT THE ACPP LOCUS, NUCLEIC ACIDS RESEARCH, 19 (17), (SEP 11), 1991, p4793
FARRAR GJ, KENNA P, REDMOND R, SHIELS D, MCWILLIAM P, HUMPHRIES MM, SHARP EM, JORDAN S, KUMARSINGH R, HUMPHRIES P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - A MUTATION IN CODON 178 OF THE RHODOPSIN GENE IN 2 FAMILIES OF CELTIC ORIGIN, GENOMICS, 11 (4), (DEC), 1991, p1170 - 1171
FARRAR, GJ, JORDAN, SA, KENNA, P, HUMPHRIES, MM, KUMARSINGH, R, MCWILLIAM, P, ALLAMAND, V, SHARP, E, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - LOCALIZATION OF A DISEASE GENE (RP6) TO THE SHORT ARM OF CHROMOSOME-6, GENOMICS, 11, 1991, p870 - 874
MCCANN, SR, COMPARISON OF PCR AND RFLP ANALYSIS OF MIXED CHIMERISM FOLLOWING BONE-MARROW TRANSPLANTATION FOR CHRONIC MYELOID-LEUKEMIA, unknown, 1991, 19, ISI Web of Science, 1991, pp564 - 564
Farrar GJ, Kenna P, Redmond R, Sheils D, McWilliam P, Humphries MM, Sharp EM, Jordan SA, Kumar-Singh R and Humphries P., Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in an adRP family of Celtic origin, Genomics, 11, 1991, p1170 - 1171
Browne PV, Lawler M, Humphries P, McCann SR., Donor-cell leukemia after bone marrow transplantation for severe aplastic anemia, N Engl J Med., 325, 1991, p710 - 713
LAWLER, M, HUMPHRIES, P, MCCANN, SR, EVALUATION OF MIXED CHIMERISM BY INVITRO AMPLIFICATION OF DINUCLEOTIDE REPEAT SEQUENCES USING THE POLYMERASE CHAIN-REACTION, BLOOD, 77, 1991, p2504 - 2514
MCCANN, SR, LAWLER, M, HUMPHRIES, P, MIXED CHIMERISM, BRITISH JOURNAL OF HAEMATOLOGY, 77, 1991, 257 - 257
BROWNE, PV, LAWLER, M, ORIORDAN, J, HUMPHRIES, P, MCCANN, SR, EARLY DETECTION OF LEUKEMIC RELAPSE AFTER BONE-MARROW TRANSPLANTATION USING THE POLYMERASE CHAIN-REACTION, BONE MARROW TRANSPLANTATION, 7, 1991, p167 - 169
Browne PV, Lawler M, O'Riordan J, Humphries P and McCann SR. , Early detection of leukaemic relapse after bone marrow transplantation using the polymerase chain reaction, Bone Marrow Transplant, 7, (2), 1991, p167 - 169
JORDAN SA, MCWILLIAM P, OBRIAIN DS, HUMPHRIES P, DINUCLEOTIDE REPEAT POLYMORPHISM AT THE D14S42 LOCUS, NUCLEIC ACIDS RESEARCH , 19 (5), (MAR 11), 1991, p1171
Jordan S, McWilliam P, O'Brian DS and Humphries P., Dinucleotide repeat polymorphism at the D14S42 locus, Nucl. Acids Res, 19, 1991, p1171-
Kumar-Singh R, Bradley DG, Farrar GJ, Lawler M, Jordan SA and Humphries P. , Autosomal dominant retinitis pigmentosa: a new multiallelic marker (D35621) genetically linked to the disease locus (RP4), Human Genetics, 86, 1991, p502 - 504
BROWNE PV, LAWLER M, HUMPHRIES P, MCCANN SR, DONOR-CELL LEUKEMIA AFTER BONE-MARROW TRANSPLANTATION FOR SEVERE APLASTIC-ANEMIA, NEW ENGLAND JOURNAL OF MEDICINE, 325 (10), (SEP 5), 1991, p710 - 713
FARRAR, GJ, A 3-BASE-PAIR DELETION IN THE PERIPHERIN-RDS GENE IN ONE FORM OF RETINITIS-PIGMENTOSA, NATURE, 354, 1991, p478 - 480
Farrar GJ, Kenna P, Redmond R, McWilliam P, Bradley DG, Humphries MM, Sharp EM, Inglehearn C, Bashir R, Jay M, Watty A, Ludwig M, Schinzel A, Sammans C, Gal A, Bhattacharya S and Humphries P, Autosomal dominant retinitis pigmentosa (RP4): absence of the rhodopsin codon 23 proline->histidine transversion in pedigrees of European origin, Am. J. Hum. Genet, 47, 1991, p941 - 945
Farrar GJ, Kenna P, Redmond R, McWilliam P, Bradley DG, Humphries MM, Sharp EM, Fishman G, Marchese C, Fusi L, Dufier JL, Abitbol M and Humphries P., Autosomal dominant retinitis pigmentosa (RP4): analysis of mutations within the rhodopsin gene. Retinitis Pigmentosa: Advances in Clinical and Genetic Research., Florida, CRC Press, 1991
Farrar GJ, Jordan SA, Kenna P, Humphries MM, Kumar-Singh R, McWilliam P, Allamand Y Sharp EM and Humphries P., Autosomal Dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6, Genomics, 11, 1991, p870 - 874
Doak S, Jordan SA, Kumar-Singh R and Humphries P., A sequence polymorphism in the human peripherin/RDS gene, Nucl. Acids. Res., 19, 1991, p6982
McCann SR, Lawler M, Humphries P., Mixed chimaerism, Br J Haematol, 77, (2), 1991, p257-
Kumar-Singh R, Jordan S, Farrar GJ and Humphries P., Poly (TIA) polymorphism at the human retinal degeneration slow (RDS) locus, Nucl. Acids Res., 19, 1991, p5800-
Progress in the locala1ization of a late-onset adRP gene. in, editor(s)Hollyfield. Anderson and LaVail , Retinal Degenerations, Florida, CRC Press, 1991, pp369 - 373, [McWilliam P, Jordan S, Kenna P, Humphries MM, Kumar-Singh R, Sharp EM and Humphries P.]
FARRAR, GJ, CONTINUED GENETIC-LINKAGE STUDIES IN AUTOSOMAL DOMINANT, unknown, 1991, 49, ISI Web of Science, 1991, pp2 - 2
Farrar GJ, Kenna P, Jordan S, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D and Humphries P., A 3 base-pair deletion in the peripherin gene in one form of retinitis pigmentosa, Nature, 354, 1991, p478 - 480
KUMARSINGH R, JORDAN SA, FARRAR GJ, HUMPHRIES P, POLY (T/A) POLYMORPHISM AT THE HUMAN RETINAL DEGENERATION SLOW (RDS) LOCUS, NUCLEIC ACIDS RESEARCH, 19 (20), (OCT 25), 1991, p5800
KUMARSINGH, R, BRADLEY, DG, FARRAR, GJ, LAWLER, M, JORDAN, SA, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - A NEW MULTI-ALLELIC MARKER (D3S621) GENETICALLY LINKED TO THE DISEASE LOCUS (RP4), HUMAN GENETICS, 86, 1991, p502 - 504
JORDAN, SA MCWILLIAM, P KENNA, P HUMPHRIES, MM SINGH, RK FARRAR, GJ, HUMPHRIES, P, GENETIC-LINKAGE STUDIES OF A LATE ONSET AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA FAMILY USING MICROSATELLITES, CYTOGENETICS AND CELL GENETICS, 58, 1991, p2114
JORDAN SA, MCWILLIAM P, OBRIAIN DS, HUMPHRIES P, DINUCLEOTIDE REPEAT POLYMORPHISM AT THE T-CELL RECEPTOR DELTA LOCUS (TCRD), NUCLEIC ACIDS RESEARCH, 19 (8), (APR 25), 1991, p1959
HUMPHRIES, MM, SHEILS, D, LAWLER, M, FARRAR, GJ, MCWILLIAM, P, KENNA, P, BRADLEY, DG, SHARP, EM, GAFFNEY, EF, YOUNG, M, UITTO, J, HUMPHRIES, P, EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH THE AUTOSOMAL DOMINANT SIMPLEX FORM, GENOMICS, 7, 1990, p377 - 381
Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubar C, Farrar GJ, Fishman GA, Frey D, Gal A, Humphries P, Jay B, Jay M, Litt M, Mochler M, Musarella M, Neugebauer M, Nussbaum RL, Terwillinger JD, Weleber RG, Wirth B, Wong R, Worton RG and Wright AF, Localizing multiple X-chromosome linked retinitis pigmentosa loci using multilocus homogeneity tests, Proc. Natl. Acad. Sci. USA,, 87, 1990, p701 - 704
Kumar-Singh R, Bradley DG, Kenna P, Farrar GJ, Lawler M, Humphries MM, Sharp E, Jordan SA, McWilliam P and Humphries P., Autosomal dominant retinitis pigmentosa (RP4): A new multi-allelic marker genetically linked to the disease locus, Hum. Genet., 86, 1990, p502 - 504
OTT, J, BHATTACHARYA, S, CHEN, JD, DENTON, MJ, DONALD, J, DUBAY, C, FARRAR, GJ, FISHMAN, GA, FREY, D, GAL, A, HUMPHRIES, P, JAY, B, JAY, M, LITT, M, MACHLER, M, MUSARELLA, M, NEUGEBAUER, M, NUSSBAUM, RL, TERWILLIGER, JD, WELEBER, RG, WIRTH, B, WONG, F, WORTON, RG, WRIGHT, AF, LOCALIZING MULTIPLE X-CHROMOSOME-LINKED RETINITIS-PIGMENTOSA LOCI USING MULTILOCUS HOMOGENEITY TESTS, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-PHYSICAL SCIENCES, 87, 1990, p701 - 704
Humphries M, Nagayoshi T, Sheils D, Humphries P, Uitto J., Human nidogen gene: identification of multiple RFLP and exclusion as candidate gene in a family with epidermolysis bullosa (EBS2) with evidence for linkage to chromosome 1, J Invest Dermatol, 95, (5), 1990, p568 - 570
FARRAR, GJ, MCWILLIAM, P, BRADLEY, DG, KENNA, P, LAWLER, M, SHARP, EM, HUMPHRIES, MM, EIBERG, H, CONNEALLY, PM, TROFATTER, JA, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - LINKAGE TO RHODOPSIN AND EVIDENCE FOR GENETIC-HETEROGENEITY, GENOMICS, 8, 1990, p35 - 40
DEARCE, MA, MULHERIN, D, MCWILLIAM, P, LAWLER, M, FITZGERALD, MX, HUMPHRIES, P, FREQUENCY OF DELETION-508 AMONG IRISH CYSTIC-FIBROSIS PATIENTS, HUMAN GENETICS, 85, 1990, p403 - 404
HUMPHRIES, MM SHEILS, D LAWLER, M FARRAR, GJ MCWILLIAM, P KENNO, P, BRADLEY, DG SHARP, EM GAFFNEY, EF YOUNG, M UITTO, J HUMPHRIES, P , EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH AUTOSOMAL DOMINANT SIMPLEX FORM, CLINICAL RESEARCH, 38, 1990, pA68
Humphries P., Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease, Clin. Genet, 38, 1990, p1 - 13
HUMPHRIES, M, NAGAYOSHI, T, SHEILS, D, HUMPHRIES, P, UITTO, J, HUMAN NIDOGEN GENE - IDENTIFICATION OF MULTIPLE RFLP AND EXCLUSION AS CANDIDATE GENE IN A FAMILY WITH EPIDERMOLYSIS-BULLOSA (EBS2) WITH EVIDENCE FOR LINKAGE TO CHROMOSOME-1, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 95, 1990, p568 - 570
HUMPHRIES, MM SHEILS, D LAWLER, M FARRAR, GJ MCWILLIAM, P KENNO, P, BRADLEY, DG SHARP, EM GAFFNEY, EF YOUNG, M UITTO, J HUMPHRIES, P, EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH AUTOSOMAL DOMINANT SIMPLEX FORM, JOURNAL OF INVESTIGATIVE DERMATOLOGY, 94, 1990, p536
HUMPHRIES, MM, EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH AUTOSOMAL DOMINANT SIMPLEX FORM, unknown, 1990, 38, ISI Web of Science, 1990, ppA683 - A683
HUMPHRIES, P, KENNA, P, MCWILLIAM, P, RETINITIS-PIGMENTOSA - GENETIC-MAPPING IN X-LINKED AND AUTOSOMAL FORMS OF THE DISEASE, by FARRAR, GJ , CLINICAL GENETICS, 38, 1990, p1 - 13
Blanton SH, Cottingham AW, Giesenschlag N, Heckenlively JR, Humphries P and Daiger SP., Further evidence for exclusion of linkage between type II autosomal dominant retinitis pigmentosa adRP and D3S47, Genomics, 8, 1990, p179 - 181
De Arce MA, Mulherin D, McWilliam P, Lawler M, FitzGerald MX, Humphries P., Frequency of deletion 508 among Irish cystic fibrosis patients, Hum Genet, 5, 1990, p403 - 404
HUMPHRIES, MM, EPIDERMOLYSIS-BULLOSA - EVIDENCE FOR LINKAGE TO GENETIC-MARKERS ON CHROMOSOME-1 IN A FAMILY WITH AUTOSOMAL DOMINANT SIMPLEX FORM, unknown, 1990, 94, ISI Web of Science, 1990, pp536 - 536
FARRAR, GJ, KENNA, P, REDMOND, R, MCWILLIAM, P, BRADLEY, DG, HUMPHRIES, MM, SHARP, EM, INGLEHEARN, CF, BASHIR, R, JAY, M, WATTY, A, LUDWIG, M, SCHINZEL, A, SAMANNS, C, GAL, A, BHATTACHARYA, S, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA - ABSENCE OF THE RHODOPSIN PROLINE-]HISTIDINE SUBSTITUTION (CODON 23) IN PEDIGREES FROM EUROPE, AMERICAN JOURNAL OF HUMAN GENETICS, 47, 1990, p941 - 945
BLANTON SH, COTTINGHAM AW, GIESENSCHLAG N, HECKENLIVELY JR, HUMPHRIES P, DAIGER SP, FURTHER EVIDENCE OF EXCLUSION OF LINKAGE BETWEEN TYPE-II AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP) AND D3S47 ON 3Q, GENOMICS, 8 (1), (SEP), 1990, p179 - 181
Bradley D, Farrar GJ, Sharp EM, Kenna P, Humphries MM, McConnell DJ, Daiger SP, McWilliam P and Humphries P, Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1, including the region around the Rhesus locus, Am. J. Hum. Genet, 44, 1989, p570 - 576
Farrar GJ, McWilliam P, Sharp EM, Kenna P, Bradley DG, Humphries MM, McConnell DJ and Humphries P, Autosomal dominant retinitis pigmentosa: exclusion of a gene from extensive regions of chromosomes, 6, 13, 20 and 21, Genomics, 5, 1989, p619 - 622
MCWILLIAM, P, FARRAR, GJ, KENNA, P, BRADLEY, DG, HUMPHRIES, MM, SHARP, EM, MCCONNELL, DJ, LAWLER, M, SHEILS, D, RYAN, C, STEVENS, K, DAIGER, SP, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (ADRP) - LOCALIZATION OF AN ADRP GENE TO THE LONG ARM OF CHROMOSOME-3, GENOMICS, 5, 1989, p619 - 622
MCQUAID S, MCCANN S, DALY P, LAWLOR E, HUMPHRIES P, OBSERVATIONS ON THE TRANSCRIPTIONAL ACTIVITY OF THE GLUTATHIONE S-TRANSFERASE PI-GENE IN HUMAN HEMATOLOGICAL MALIGNANCIES AND IN THE PERIPHERAL LEUKOCYTES OF CANCER-PATIENTS UNDER CHEMOTHERAPY, BRITISH JOURNAL OF CANCER, 59 (4), (APR), 1989, p540 - 543
BRADLEY, DG, FARRAR, GJ, SHARP, EM, KENNA, P, HUMPHRIES, MM, MCCONNELL, DJ, DAIGER, SP, MCWILLIAM, P, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA - EXCLUSION OF THE GENE FROM THE SHORT ARM OF CHROMOSOME-I INCLUDING THE REGION SURROUNDING THE RHESUS LOCUS, AMERICAN JOURNAL OF HUMAN GENETICS, 44, 1989, p570 - 576
DAIGER, SP, HUMPHRIES, MM, GIESENSCHLAG, N, SHARP, E, MCWILLIAM, P, FARRER, J, BRADLEY, D, KENNA, P, MCCONNELL, DJ, SPARKES, RS, SPENCE, MA, HECKENLIVELY, JR, HUMPHRIES, P, LINKAGE ANALYSIS OF HUMAN CHROMOSOME-4 - EXCLUSION OF AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (ADRP) AND DETECTION OF NEW LINKAGE GROUPS, CYTOGENETICS AND CELL GENETICS, 50, 1989, p181 - 187
FARRAR, GJ, MCWILLIAM, P, SHARP, EM, KENNA, P, BRADLEY, DG, HUMPHRIES, MM, MCCONNELL, DJ, HUMPHRIES, P, AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA - EXCLUSION OF A GENE FROM EXTENSIVE REGIONS OF CHROMOSOME-6, CHROMOSOME-13, CHROMOSOME-20, AND CHROMOSOME-21, GENOMICS, 5, 1989, p612 - 618
BRADLEY, DG FARRAR, GJ SHARP, E KENNA, P HUMPHRIES, MM MCWILLIAM, P, HUMPHRIES, P, EXCLUSION MAPPING OF THE AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (RP1) LOCUS FROM THE SHORT ARM OF CHROMOSOME-1, CYTOGENETICS AND CELL GENETICS, 51, 1989, p968
Daiger SP, Humphries MM, Giesenschlag N, Sharp EM, McWilliam P, Farrar GJ, Bradley DG, McConnell DJ, Kenna P, Sparkes RS, Spence MA, Heckenlively JR and Humphries P, Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa and detection of new linkage groups Cytogen, Cell Genet, 50, 1989, p181 - 187
LAWLER, M, MCCANN, SR, CONNEALLY, E, HUMPHRIES, P, CHIMERISM FOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANTATION - DETECTION OF RESIDUAL HOST-CELLS USING THE POLYMERASE CHAIN-REACTION, BRITISH JOURNAL OF HAEMATOLOGY, 73, 1989, p205 - 210
BRADLEY, DG, EXCLUSION MAPPING OF THE AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (RP1) LOCUS FROM THE SHORT ARM OF CHROMOSOME-1, unknown, 1989, 51, ISI Web of Science, 1989, pp968 - 968
GILL M, MCKEON P, HUMPHRIES P, LINKAGE ANALYSIS OF MANIC DEPRESSION IN AN IRISH FAMILY USING H-RAS-1 AND INS DNA MARKERS, JOURNAL OF MEDICAL GENETICS, 25 (9): , (SEP), 1988, p634 - 637
FARRAR, GJ, GERAGHTY, MT, MOLONEY, JMB, MCCONNELL, DJ, HUMPHRIES, P, LINKAGE ANALYSIS OF X-LINKED RETINITIS PIGMENTOSA IN THE IRISH POPULATION, JOURNAL OF MEDICAL GENETICS, 25, 1988, p222 - 226
Gill M, McKeon P, Humphries P., Linkage analysis of manic depression in an Irish family using H-ras 1 and INS DNA markers, J Med Genet, 25 , (9), 1988, p634 - 635
LAWLER, M, MCCANN, SR, HUMPHRIES, P, A RAPID DOT BLOT ASSAY FOR CHIMERISM FOLLOWING SEX MISMATCHED BONE-MARROW TRANSPLANTATION, BONE MARROW TRANSPLANTATION, 3, 1988, p212 - 212
RUSSELL, SEH, PEARSON, C, KELLY, M, MCQUAID, S, HUMPHRIES, P, LONG-TERM DOSING STUDIES USING MUTAGENIC CARCINOGENS INDICATE A HIGHLY SIGNIFICANT CORRELATION BETWEEN ELEVATIONS IN THE LEVEL OF RAT GLUTATHIONE-S-TRANSFERASE-P MESSENGER-RNA AND LIVER-TUMORS OF HEPATOCELLULAR ORIGIN, BIOCHEMICAL JOURNAL, 249, 1988, p105 - 109
FARRAR, GJ, LINKAGE ANALYSIS OF X-LINKED RETINITIS PIGMENTOSA (RP2) IN THE IRISH POPULATION, unknown, 1987, 46, ISI Web of Science, 1988, pp613 - 613
LAWLER, M, MCCANN, SR, DEARCE, MA, HUMPHRIES, P, A RAPID DOT-BLOT ASSAY TO ASSESS CHIMERISM FOLLOWING SEX-MISMATCHED BONE-MARROW TRANSPLANTATION, BONE MARROW TRANSPLANTATION, 3, 1988, p473 - 482
Russell SE, Pearson C, Kelly M, McQuaid S, Humphries P., Long-term dosing studies using mutagenic carcinogens indicate a highly significant correlation between elevations in the level of rat glutathione S-transferase P messenger RNA and liver tumours of hepatocellular origin, Biochem Journal, 249, (1), 1988, p105 - 109
MCQUAID, S, OBRIEN, A, BUTLER, MR, HUMPHRIES, P, TRANSCRIPTIONAL ACTIVATION OF THE GLUTATHIONE S-TRANSFERASE-PI GENE IN HUMAN URETERIC AND BLADDER CARCINOMAS, CANCER LETTERS, 39, 1988, p209 - 216
Humphries P, Russell SE, McWilliam P, McQuaid S, Pearson C, Humphries MM, Observations on the structure of two human 7SK pseudogenes and on homologous transcripts in vertebrate species, Biochem, 245, (1), 1987, p281 - 284
HUMPHRIES, P, RUSSELL, SEH, MCWILLIAM, P, MCQUAID, S, PEARSON, C, HUMPHRIES, MM, OBSERVATIONS ON THE STRUCTURE OF 2 HUMAN 7SK PSEUDOGENES AND ON HOMOLOGOUS TRANSCRIPTS IN VERTEBRATE SPECIES, BIOCHEMICAL JOURNAL, 245, 1987, p281 - 284
MCQUAID, S, RUSSELL, SEH, WITHE, SA, PEARSON, CM, ELCOMBE, CR, HUMPHRIES, P, ANALYSIS OF TRANSCRIPTS HOMOLOGOUS TO ACYL-COA OXIDASE AND ENOYL-COA HYDRATASE 3-HYDROXYACYL-COA DEHYDROGENASE INDUCED IN RAT-LIVER BY METHYLCLOFENAPATE, CANCER LETTERS, 37, 1987, p115 - 121
GERAGHTY, M, SARSFIELD, P, TEMPERLEY, I, HUMPHRIES, P, USE OF FACTOR-IX INTRAGENIC RECOMBINANT-DNA PROBES FOR EVALUATION OF CARRIER STATUS IN HEMOPHILIA-B FAMILIES OF IRISH ORIGIN, IRISH JOURNAL OF MEDICAL SCIENCE, 155, 1987, p419 - 424
HUMPHRIES, P, POLYMORPHIC DNA MARKERS GENETICALLY LINKED TO DISEASE-CAUSING GENES - A REVIEW, IRISH JOURNAL OF MEDICAL SCIENCE, 155, 1987, p425 - 430
McQuaid S, Russell SE, Withe SA, Pearson CM, Elcombe CR, Humphries P. , Analysis of transcripts homologous to acyl-CoA oxidase and enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase induced in rat liver by methylclofenapate, Cancer Lett., 1, 1987, p115 - 121
Gardiner N, Lawler M, O'Riordan J, DeArce M, Humphries P, McCann SR., Persistent donor chimaerism is consistent with disease-free survival following BMT for chronic myeloid leukaemia, Bone Marrow Transplant, 20, (3), 1987, p235 - 241
Humphries P., Polymorphic DNA markers genetically linked to disease-causing genes, Ir J Med Sci., 155, (12), 1986, p425 - 430
Geraghty M, Sarsfield P, Temperley I, Humphries P., Use of factor IX intragenic recombinant DNA probes for evaluation of carrier status in haemophilia B families of Irish origin, Ir J Med Sci., 155, (12), 1986, p419 - 424
Humphries P, MacCabe AP, Spencer RA, Humphries MM, Pearson C., Structural and transcriptional properties associated with a member of a new family of conserved short dispersed repeated elements in human DNA, Gene, 39, (2-3), 1985, p255 - 261
HUMPHRIES P, MACCABE AP, SPENCER RA, HUMPHRIES MM, PEARSON C, STRUCTURAL AND TRANSCRIPTIONAL PROPERTIES ASSOCIATED WITH A MEMBER OF A NEW FAMILY OF CONSERVED SHORT DISPERSED REPEATED ELEMENTS IN HUMAN DNA, GENE, 39, (2-3), 1985, p255 - 261
Humphries P, Barton D, McKay AM, Humphries MM, Carritt B., Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA, Mol Gen Genet, 190, (1), 1983, p143 - 149
Humphries, P., Consistent molecular genetic variation in human gastrointestinal carcinoma., Nature, 239, 1981, p146 - 148
Humphries P, Old R, Coggins LW, McShane T, Watson C, Paul J., Recombinant plasmids containing Xenopus laevis globin structural genes derived from complementary DNA, Nucleic Acids Res., 5, (3), 1978, p905 - 924
Gordon RL, Humphries P and McConnell DJ., Restriction enzyme cleavage mapping of T7 virus early region, Mol Gen Genet, 162, 1978, p329 - 339
Humphries P, Coggins LW, Old RW, Mitchell GJ, Coleclough C and Paul J. , Structure of recombinant plasmids containing synthetic human foetal globin gene sequences, Mol Gen Genet, 165, 1978, p65 - 71
Humphries P, Cochet M, Krust A, Gerlinger P, Kourilsky P, Chambon P., Molecular cloning of extensive sequences of the in vitro synthesized chicken ovalbumin structural gene, Nucleic Acids Res., 1977, p2389 - 406
Humphries P, McConnell DJ and Conneally P., Interaction of Escherichia coli DNA-dependent RNA polymerase and endonuclease R Hind fragments of T7 DNA, Biochim Biophys Acta 27, 366, (1), 1974, p70 - 80
Humphries P, Gordon RL, McConnell DJ and Conneally P., Endonuclease R. Hind fragments of T7 DNA, Virology, 58, (1), 1974, p25 - 31
Humphries P, McConnell DJ and Gordon RI., A procedure for the rapid purification of Escherichia coli deoxyribonucleic acid-dependent ribonucleic acid polymerase, Biochem Journal, 133, (1), 1973, p201 - 203
Non-Peer-Reviewed Publications
Modulation of tight junctions for delivery to the brain in, Advances in Non-Invasive Drug Delivery to the Brain, 2015, pp80 - 92, [Keaney J, Humphries P, Campbell M]
Research Expertise
Description
Globally, over 160 million people are estimated to be visually impaired, in spite of the fact that up to 70% of global visual handicap, caused by cataract, glaucoma, corneal opacities and infection, is treatable or preventable (including most open-angle glaucomas). In the developed World, conditions that are essentially eclipsed by the vastly more common forms of world blindness become very much more visible. These are the hereditary retinopathies (prominent among which is Retinitis Pigmentosa), Age-related Macular Degeneration (AMD) and Proliferative Diabetic Retinopathy (PDR). Also, possibly up to 10% of cases of Open-angle Glaucoma either do not respond adequately, or become resistant to conventional pressure-reducing medications. For three decades, Pete's research has been directed toward understanding the molecular pathologies associated with retinal degeneration, early studies focusing almost exclusively on hereditary retinopathies, for example, in the localization of genes for RP to chromosomes 3q (rhodopsin), 6p (RDS-peripherin) and 7q (inosine monophosphate dehydrogenase 1) and on the generation of targeted murine disease models. As a result of world efforts, it is now clear that hereditary retinopathies possibly represent the most genetically heterogeneous of any group of hereditary conditions for which molecular pathologies have been explored. On one hand, the progressive unfolding of an immensely complex genetic landscape has been inspirational, but on the other, and in a very much more translational sense, this same genetic heterogeneity presents an immensely significant challenge - developing gene medicines for what could be several hundred individually rather rare hereditary conditions is a major logistical and economic hurdle that must now be surmounted. In this regard, a major recent focus of research has been in the development of procedures for modulating permeability at the blood-brain and inner blood retina barriers such as to allow access to the brain and retina of systemically administered low molecular weight potentially protective compounds targeting molecular pathologies common to multiple forms of disease (protein misfolding or aggregation, oxidative stress, neuroprotection, etc) which could be used either singly or in a combinatorial sense together with gene therapies. More recently, multifactorial conditions, including AMD and glaucoma have become a major focus of research. Peter's work on the development of novel aspects of glaucoma therapy is supported by an advanced grant from the European Research Council.Recognition
Memberships
Retina International (IRPA)-Scientific and Medical Advisory Board
Foundation Fighting Blindness (USA)-Focus Group on Genetics and Genetic Technology
Dystrophic Epidermolysis Bullosa Research Association (DEBRA)-International Medical and Scientific Advisory Board
Member, Alcon Research Institute (USA)
Communicating Editor, Human Mutation
The Human Genome Organisation (HUGO)- Founder Irish Member
Editorial Board, Human Molecular Genetics
Irish Society of Human Genetics (President)
American Society of Human Genetics
Association for Research in Vision and Ophthalmology
Trinity College Neurosciences Institute (TCIN)
All-Ireland Retinal Researchers Network
Irish Network of Neuronal Stem-cell Investigators
Biopharmaceutical Sciences, Network
Fighting Blindness Ireland Medical and Scientific Advisory Board
Member of European Molecular Biology Organization
AMD (Age-Related Macular Dystrophy) Alliance International Scientific Advisory Panel
Medical Research Council (UK) Advisory Panel
Member, College of Reviewers for the Canada Research Chairs Programme
DSc University of Seged
Member, Royal Irish Academy
Fellow, Trinity College Dublin